Count of genes per gene set
Count of gene sets per gene
| Id: | gene_properties/gene_sets/gene2phenotype |
| Type: | gene_set_collection |
| Version: | 0 |
| Summary: |
gene2phenotype 28082024 release |
| Description: |
Gene2Phenotype is a comprehensive resource that links specific genes to their associated phenotypes or diseases, facilitating a deeper understanding of the genetic basis of human conditions. By cataloging gene-disease associations, it enables researchers and clinicians to explore how particular genetic variants or mutations contribute to observable traits, symptoms, and clinical outcomes. This resource is pivotal in areas like medical genetics, personalized medicine, and diagnostic research, where understanding the genetic underpinnings of diseases can guide more accurate diagnoses, targeted treatments, and improved patient care. Gene2Phenotype also aids in elucidating disease mechanisms by linking gene mutations to their functional consequences, thereby offering insights into the molecular pathways involved in various conditions. Yates et al, Curating genomic disease-gene relationships with Gene2Phenotype, medRxiv 2024 Processing DetailsDownloaded gene - (cancer, cardiac, developmental disease, eye, skeletal, skin) disease association files from https://ftp.ebi.ac.uk/pub/databases/gene2phenotype/28_08_2024/ on 09/09/2024. dataprep1.py merges these six disease-specific csv files to make gene2phenotype.csv; prepares two files from the merged file: gene2phenotype-map.txt has genes and disease names (spaces replaced with _) gene2phenotype-mapnames.txt has disease names as two repeated columns |
| Labels: |
Number of gene sets: 3252
Number of unique genes: 2881
| Gene Set | Gene Count | Description |
|---|---|---|
| AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 43 | AUTOSOMAL_RECESSIVE_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| INTELLECTUAL_DISABILITY | 41 | INTELLECTUAL_DISABILITY |
| Retinitis_pigmentosa | 25 | Retinitis_pigmentosa |
| EPILEPTIC_ENCEPHALOPATHY | 13 | EPILEPTIC_ENCEPHALOPATHY |
| LEBER_CONGENITAL_AMAUROSIS | 9 | LEBER_CONGENITAL_AMAUROSIS |
| CONGENITAL_DISORDERS_OF_GLYCOSYLATION | 8 | CONGENITAL_DISORDERS_OF_GLYCOSYLATION |
| SYNDROMIC_INTELLECTUAL_DISABILITY | 8 | SYNDROMIC_INTELLECTUAL_DISABILITY |
| AUTISM | 8 | AUTISM |
| Retinal_dystrophy | 8 | Retinal_dystrophy |
| Congenital_cataract | 8 | Congenital_cataract |
| LEIGH_SYNDROME | 7 | LEIGH_SYNDROME |
| PRIMARY_CILIARY_DYSKINESIA | 7 | PRIMARY_CILIARY_DYSKINESIA |
| Epilepsy_and_intellectual_disability | 7 | Epilepsy_and_intellectual_disability |
| MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY | 6 | MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY |
| JOUBERT_SYNDROME | 6 | JOUBERT_SYNDROME |
| HETEROTAXY_SYNDROME | 5 | HETEROTAXY_SYNDROME |
| MITOCHONDRIAL_COMPLEX_I_DEFICIENCY | 5 | MITOCHONDRIAL_COMPLEX_I_DEFICIENCY |
| Cone-rod_dystrophy | 5 | Cone-rod_dystrophy |
| Macular_dystrophy | 5 | Macular_dystrophy |
| CARDIOFACIOCUTANEOUS_SYNDROME | 4 | CARDIOFACIOCUTANEOUS_SYNDROME |
| Pheochromocytoma | 4 | Pheochromocytoma |
| CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME | 4 | CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME |
| Breast_cancer,_susceptibility_to | 4 | Breast_cancer,_susceptibility_to |
| Dyskeratosis_Congenita | 4 | Dyskeratosis_Congenita |
| MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY | 4 | MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I_DEFICIENCY |
| HOLOPROSENCEPHALY | 4 | HOLOPROSENCEPHALY |
| LEBER_HEREDITARY_OPTIC_NEUROPATHY | 4 | LEBER_HEREDITARY_OPTIC_NEUROPATHY |
| SCHWANNOMATOSIS | 3 | SCHWANNOMATOSIS |
| ZELLWEGER_SYNDROME | 3 | ZELLWEGER_SYNDROME |
| LOEYS-DIETZ_SYNDROME | 3 | LOEYS-DIETZ_SYNDROME |
| Monilethrix | 3 | Monilethrix |
| Omenn_syndrome | 3 | Omenn_syndrome |
| Lynch_syndrome | 3 | Lynch_syndrome |
| Wilms_tumour | 3 | Wilms_tumour |
| Dyskeratosis_congenita,_autosomal_recessive | 3 | Dyskeratosis_congenita,_autosomal_recessive |
| AURICULOCONDYLAR_SYNDROME | 3 | AURICULOCONDYLAR_SYNDROME |
| PRIMORDIAL_DWARFISM | 3 | PRIMORDIAL_DWARFISM |
| COENZYME_Q10_DEFICIENCY | 3 | COENZYME_Q10_DEFICIENCY |
| FRASER_SYNDROME | 3 | FRASER_SYNDROME |
| PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4 | 3 | PONTOCEREBELLAR_HYPOPLASIA_TYPE_2_AND_TYPE_4 |
| MAPLE_SYRUP_URINE_DISEASE | 3 | MAPLE_SYRUP_URINE_DISEASE |
| Neurodevelopmental_Disorder | 3 | Neurodevelopmental_Disorder |
| Syndromic_congenital_cataract | 3 | Syndromic_congenital_cataract |
| Ciliopathy_syndrome | 3 | Ciliopathy_syndrome |
| ALPORT_SYNDROME_AUTOSOMAL_RECESSIVE | 2 | ALPORT_SYNDROME_AUTOSOMAL_RECESSIVE |
| ACROFACIAL_DYSOSTOSIS_WEYERS_TYPE | 2 | ACROFACIAL_DYSOSTOSIS_WEYERS_TYPE |
| VAN_DER_WOUDE_SYNDROME | 2 | VAN_DER_WOUDE_SYNDROME |
| CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME_(CCMRD) | 2 | CONSTITUTIONAL_MISMATCH_REPAIR_DEFICIENCY_SYNDROME_(CCMRD) |
| MUIR-TORRE_SYNDROME | 2 | MUIR-TORRE_SYNDROME |
| CLEFT_LIP_+/-_CLEFT_PALATE | 2 | CLEFT_LIP_+/-_CLEFT_PALATE |
| BECKWITH-WIEDEMANN_SYNDROME | 2 | BECKWITH-WIEDEMANN_SYNDROME |
| PROPIONIC_ACIDEMIA | 2 | PROPIONIC_ACIDEMIA |
| ACRODYSOSTOSIS | 2 | ACRODYSOSTOSIS |
| PROTEUS_SYNDROME | 2 | PROTEUS_SYNDROME |
| Classical_Ehlers_Danlos_syndrome | 2 | Classical_Ehlers_Danlos_syndrome |
| Epidermodysplasia_verruciformis | 2 | Epidermodysplasia_verruciformis |
| Gorlin_syndrome | 2 | Gorlin_syndrome |
| Hereditary_haemorrhagic_telangiectasia | 2 | Hereditary_haemorrhagic_telangiectasia |
| Sitosterolemia | 2 | Sitosterolemia |
| Waardenburg_syndrome_type_IV | 2 | Waardenburg_syndrome_type_IV |
| White_sponge_naevus | 2 | White_sponge_naevus |
| WINCHESTER_SYNDROME | 2 | WINCHESTER_SYNDROME |
| Epidermolysis_Bullosa_Simplex_localised_(Weber_Cockayne) | 2 | Epidermolysis_Bullosa_Simplex_localised_(Weber_Cockayne) |
| Epidermolysis_Bullosa_Simplex_generalised_intermediate_(Köbner) | 2 | Epidermolysis_Bullosa_Simplex_generalised_intermediate_(Köbner) |
| Epidermolysis_Bullosa_Simplex_generalised_severe_(Dowling_-_Meara) | 2 | Epidermolysis_Bullosa_Simplex_generalised_severe_(Dowling_-_Meara) |
| Epidermolysis_Bullosa_Junctional_(lethal_Herlitz) | 2 | Epidermolysis_Bullosa_Junctional_(lethal_Herlitz) |
| Hypertriglycidaemia,_familial | 2 | Hypertriglycidaemia,_familial |
| Ichthyosiform_erythroderma,_bullous | 2 | Ichthyosiform_erythroderma,_bullous |
| Ichthyosis,_cyclic_with_epidermolytic_hyperkeratosis | 2 | Ichthyosis,_cyclic_with_epidermolytic_hyperkeratosis |
| Pachyonychia_congenita_1_Jadassohn-Lewandowsky | 2 | Pachyonychia_congenita_1_Jadassohn-Lewandowsky |
| Pachyonychia_congenita_2_Jackson-Lawler | 2 | Pachyonychia_congenita_2_Jackson-Lawler |
| PPK_Vorner-Unna-Thost_(non-epidermolytic) | 2 | PPK_Vorner-Unna-Thost_(non-epidermolytic) |
| PPK_(striate) | 2 | PPK_(striate) |
| Piebaldism | 2 | Piebaldism |
| Waardenburg_syndrome_type_IV_(biallelic,_loss_of_function) | 2 | Waardenburg_syndrome_type_IV_(biallelic,_loss_of_function) |
| PHEOCHROMOCYTOMA,_SUSCEPTIBILITY_TO | 2 | PHEOCHROMOCYTOMA,_SUSCEPTIBILITY_TO |
| POLYMERASE_PROOFREADING-ASSOCIATED_POLYPOSIS | 2 | POLYMERASE_PROOFREADING-ASSOCIATED_POLYPOSIS |
| NONSPECIFIC_SEVERE_ID | 2 | NONSPECIFIC_SEVERE_ID |
| SPLIT_HAND_AND_FOOT_MALFORMATION | 2 | SPLIT_HAND_AND_FOOT_MALFORMATION |
| BARAITSER-WINTER_SYNDROME | 2 | BARAITSER-WINTER_SYNDROME |
| JOUBERT_SYNDROME_AND_RELATED_DISORDERS | 2 | JOUBERT_SYNDROME_AND_RELATED_DISORDERS |
| COFFIN_SIRIS | 2 | COFFIN_SIRIS |
| HEREDITARY_SPASTIC_PARAPLEGIA | 2 | HEREDITARY_SPASTIC_PARAPLEGIA |
| AUTOSOMAL-DOMINANT_ROBINOW_SYNDROME | 2 | AUTOSOMAL-DOMINANT_ROBINOW_SYNDROME |
| PRIMARY_MICROCEPHALY | 2 | PRIMARY_MICROCEPHALY |
| MOLYBDENUM_COFACTOR_DEFICIENCY | 2 | MOLYBDENUM_COFACTOR_DEFICIENCY |
| MOEBIUS_SYNDROME | 2 | MOEBIUS_SYNDROME |
| PONTOCEREBELLAR_HYPOPLASIA_TYPE_1 | 2 | PONTOCEREBELLAR_HYPOPLASIA_TYPE_1 |
| PRIMARY_AUTOSOMAL_RECESSIVE_MICROCEPHALY | 2 | PRIMARY_AUTOSOMAL_RECESSIVE_MICROCEPHALY |
| HYPOGONADOTROPIC_HYPOGONADISM | 2 | HYPOGONADOTROPIC_HYPOGONADISM |
| PONTOCEREBELLAR_HYPOPLASIA | 2 | PONTOCEREBELLAR_HYPOPLASIA |
| PERRAULT_SYNDROME | 2 | PERRAULT_SYNDROME |
| SPASTIC_ATAXIA,_CHARLEVOIX-SAGUENAY_TYPE | 2 | SPASTIC_ATAXIA,_CHARLEVOIX-SAGUENAY_TYPE |
| EHMT1-LIKE_INTELLECTUAL_DISABILITY | 2 | EHMT1-LIKE_INTELLECTUAL_DISABILITY |
| BARTTER_SYNDROME_TYPE_4B | 2 | BARTTER_SYNDROME_TYPE_4B |
| GLYCINE_ENCEPHALOPATHY | 2 | GLYCINE_ENCEPHALOPATHY |
| CONGENITAL_MUSCULAR_DYSTROPHY | 2 | CONGENITAL_MUSCULAR_DYSTROPHY |
| JUVENILE_MYOCLONIC_EPILEPSY | 2 | JUVENILE_MYOCLONIC_EPILEPSY |
| COMPLEX_HEREDITARY_SPASTIC_PARAPLEGIA | 2 | COMPLEX_HEREDITARY_SPASTIC_PARAPLEGIA |
| FRONTOMETAPHYSEAL_DYSPLASIA | 2 | FRONTOMETAPHYSEAL_DYSPLASIA |
| EARLY_ONSET_EPILEPTIC_ENCEPHALOPATHY | 2 | EARLY_ONSET_EPILEPTIC_ENCEPHALOPATHY |
| OSTEOGENESIS_IMPERFECTA | 2 | OSTEOGENESIS_IMPERFECTA |
| ADAMS_OLIVER_SYNDROME | 2 | ADAMS_OLIVER_SYNDROME |
| ANTERIOR_SEGMENT_MESENCHYMAL_DYSGENESIS | 2 | ANTERIOR_SEGMENT_MESENCHYMAL_DYSGENESIS |
| UROFACIAL_SYNDROME | 2 | UROFACIAL_SYNDROME |
| PRIMARY_CONGENITAL_GLAUCOMA_TYPE_3A | 2 | PRIMARY_CONGENITAL_GLAUCOMA_TYPE_3A |
| CONGENITAL_HEART_DISEASE | 2 | CONGENITAL_HEART_DISEASE |
| ACHROMATOPSIA | 2 | ACHROMATOPSIA |
| TRICHOTHIODYSTROPHY_PHOTOSENSITIVE | 2 | TRICHOTHIODYSTROPHY_PHOTOSENSITIVE |
| CORNELIA_DE_LANGE-LIKE_SYNDROME | 2 | CORNELIA_DE_LANGE-LIKE_SYNDROME |
| ZIMMERMANN-LABAND_SYNDROME | 2 | ZIMMERMANN-LABAND_SYNDROME |
| INFANTILE_EPILEPTIC_ENCEPHALOPATHY | 2 | INFANTILE_EPILEPTIC_ENCEPHALOPATHY |
| Circumferential_Skin_Creases_Kunze_Type | 2 | Circumferential_Skin_Creases_Kunze_Type |
| Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia | 2 | Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION | 2 | CONGENITAL_DISORDER_OF_GLYCOSYLATION |
| Prenatal_Spinal_Muscular_Atrophy_and_Congenital_Bone_Fractures | 2 | Prenatal_Spinal_Muscular_Atrophy_and_Congenital_Bone_Fractures |
| Congenital_Hemangioma | 2 | Congenital_Hemangioma |
| Syndromic_INTELLECTUAL_DISABILITY_with_or_without_congenital_heart_disease | 2 | Syndromic_INTELLECTUAL_DISABILITY_with_or_without_congenital_heart_disease |
| Microcephaly_with_short_stature | 2 | Microcephaly_with_short_stature |
| Glycosylphosphatidylinositol_deficiency | 2 | Glycosylphosphatidylinositol_deficiency |
| Anterior_Segment_Dysgenesis | 2 | Anterior_Segment_Dysgenesis |
| Blepharo-cheiro-dontic_syndrome | 2 | Blepharo-cheiro-dontic_syndrome |
| Weaver-like_overgrowth_syndrome | 2 | Weaver-like_overgrowth_syndrome |
| Autosomal-Recessive_Intellectual_Disability_and_Microcephaly | 2 | Autosomal-Recessive_Intellectual_Disability_and_Microcephaly |
| Non-syndromic_craniosynostosis | 2 | Non-syndromic_craniosynostosis |
| Noonan_syndrome | 2 | Noonan_syndrome |
| Developmental_and_Epileptic_Encephalopathy | 2 | Developmental_and_Epileptic_Encephalopathy |
| Bloom_Syndrome_like_Disorder | 2 | Bloom_Syndrome_like_Disorder |
| Intellectual_Disability_and_Central_Nervous_System_anomalies | 2 | Intellectual_Disability_and_Central_Nervous_System_anomalies |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE | 2 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE |
| Meesmann_corneal_dystrophy | 2 | Meesmann_corneal_dystrophy |
| Optic_atrophy | 2 | Optic_atrophy |
| DOMINANT_LATE-ONSET_FUCHS_CORNEAL_DYSTROPHY | 2 | DOMINANT_LATE-ONSET_FUCHS_CORNEAL_DYSTROPHY |
| Albinism,_oculocutaneous,_type_VII | 2 | Albinism,_oculocutaneous,_type_VII |
| Blue_cone_monochromacy | 2 | Blue_cone_monochromacy |
| Bradyopsia | 2 | Bradyopsia |
| Cataract | 2 | Cataract |
| Non-syndromic_retinal_degeneration | 2 | Non-syndromic_retinal_degeneration |
| ACHALASIA-ADDISONIANISM-ALACRIMA_SYNDROME | 1 | ACHALASIA-ADDISONIANISM-ALACRIMA_SYNDROME |
| ARTERIAL_CALCIFICATION,_GENERALIZED,_OF_INFANCY,_2 | 1 | ARTERIAL_CALCIFICATION,_GENERALIZED,_OF_INFANCY,_2 |
| ADRENOLEUKODYSTROPHY,_X-LINKED | 1 | ADRENOLEUKODYSTROPHY,_X-LINKED |
| FIBRODYSPLASIA_OSSIFICANS_PROGRESSIVA | 1 | FIBRODYSPLASIA_OSSIFICANS_PROGRESSIVA |
| ASPARTYLGLUCOSAMINURIA | 1 | ASPARTYLGLUCOSAMINURIA |
| HYPEROXALURIA,_PRIMARY,_TYPE_1 | 1 | HYPEROXALURIA,_PRIMARY,_TYPE_1 |
| AUTOIMMUNE_POLYENDOCRINOPATHY_SYNDROME_TYPE_1 | 1 | AUTOIMMUNE_POLYENDOCRINOPATHY_SYNDROME_TYPE_1 |
| ALSTROM_SYNDROME | 1 | ALSTROM_SYNDROME |
| DESMOID_DISEASE,_HEREDITARY | 1 | DESMOID_DISEASE,_HEREDITARY |
| ADENOMATOUS_POLYPOSIS_COLI | 1 | ADENOMATOUS_POLYPOSIS_COLI |
| ANDROGEN_INSENSITIVITY_SYNDROME | 1 | ANDROGEN_INSENSITIVITY_SYNDROME |
| SPINAL_AND_BULBAR_MUSCULAR_ATROPHY | 1 | SPINAL_AND_BULBAR_MUSCULAR_ATROPHY |
| ARSL-related_chondrodysplasia_punctata | 1 | ARSL-related_chondrodysplasia_punctata |
| ARGININOSUCCINATE_LYASE_DEFICIENCY | 1 | ARGININOSUCCINATE_LYASE_DEFICIENCY |
| ATAXIA-TELANGIECTASIA | 1 | ATAXIA-TELANGIECTASIA |
| SPINAL_MUSCULAR_ATROPHY,_DISTAL,_X-LINKED_3 | 1 | SPINAL_MUSCULAR_ATROPHY,_DISTAL,_X-LINKED_3 |
| MENKES_DISEASE | 1 | MENKES_DISEASE |
| LEOPARD_SYNDROME_TYPE_3 | 1 | LEOPARD_SYNDROME_TYPE_3 |
| NOONAN_SYNDROME_TYPE_7 | 1 | NOONAN_SYNDROME_TYPE_7 |
| FANCONI_ANEMIA_COMPLEMENTATION_GROUP_D_TYPE_1 | 1 | FANCONI_ANEMIA_COMPLEMENTATION_GROUP_D_TYPE_1 |
| BRCA2_associated_CANCER | 1 | BRCA2_associated_CANCER |
| BIOTINIDASE_DEFICIENCY | 1 | BIOTINIDASE_DEFICIENCY |
| CBS-related_homocystinuria_due_to_cystathionine_beta-synthase_deficiency | 1 | CBS-related_homocystinuria_due_to_cystathionine_beta-synthase_deficiency |
| NEPHROPATHY_WITH_PRETIBIAL_EPIDERMOLYSIS_BULLOSA_AND_DEAFNESS | 1 | NEPHROPATHY_WITH_PRETIBIAL_EPIDERMOLYSIS_BULLOSA_AND_DEAFNESS |
| EEM_SYNDROME | 1 | EEM_SYNDROME |
| MELANOMA,_CUTANEOUS_MALIGNANT,_3 | 1 | MELANOMA,_CUTANEOUS_MALIGNANT,_3 |
| MELANOMA,_CUTANEOUS_MALIGNANT,_2 | 1 | MELANOMA,_CUTANEOUS_MALIGNANT,_2 |
| EHLERS-DANLOS_SYNDROME,_CLASSIC_TYPE,_COL1A1-RELATED | 1 | EHLERS-DANLOS_SYNDROME,_CLASSIC_TYPE,_COL1A1-RELATED |
| CAFFEY_DISEASE | 1 | CAFFEY_DISEASE |
| COL1A1/2-RELATED_OSTEOGENESIS_IMPERFECTA | 1 | COL1A1/2-RELATED_OSTEOGENESIS_IMPERFECTA |
| EHLERS-DANLOS_SYNDROME_TYPE_VIIA | 1 | EHLERS-DANLOS_SYNDROME_TYPE_VIIA |
| OSTEOGENESIS_IMPERFECTA_TYPE_I | 1 | OSTEOGENESIS_IMPERFECTA_TYPE_I |
| OSTEOGENESIS_IMPERFECTA_TYPE_IIA | 1 | OSTEOGENESIS_IMPERFECTA_TYPE_IIA |
| OSTEOGENESIS_IMPERFECTA_TYPE_III | 1 | OSTEOGENESIS_IMPERFECTA_TYPE_III |
| EHLERS-DANLOS_SYNDROME_TYPE_4 | 1 | EHLERS-DANLOS_SYNDROME_TYPE_4 |
| ALPORT_SYNDROME_AUTOSOMAL_DOMINANT | 1 | ALPORT_SYNDROME_AUTOSOMAL_DOMINANT |
| CREBBP_intellectual_disability_without_typical_RTS_features | 1 | CREBBP_intellectual_disability_without_typical_RTS_features |
| CREBBP-related_Rubinstein-Taybi_syndrome | 1 | CREBBP-related_Rubinstein-Taybi_syndrome |
| CTNS-related_nephropathic_cystinosis | 1 | CTNS-related_nephropathic_cystinosis |
| XERODERMA_PIGMENTOSUM,_GROUP_E,_DDB-NEGATIVE_SUBTYPE | 1 | XERODERMA_PIGMENTOSUM,_GROUP_E,_DDB-NEGATIVE_SUBTYPE |
| SMITH-LEMLI-OPITZ_SYNDROME | 1 | SMITH-LEMLI-OPITZ_SYNDROME |
| DKC1-related_dyskeratosis_congenita | 1 | DKC1-related_dyskeratosis_congenita |
| DYSTROPHIA_MYOTONICA_TYPE_1 | 1 | DYSTROPHIA_MYOTONICA_TYPE_1 |
| SEVERE_DERMATITIS,_MULTIPLE_ALLERGIES_AND_METABOLIC_WASTING | 1 | SEVERE_DERMATITIS,_MULTIPLE_ALLERGIES_AND_METABOLIC_WASTING |
| CHONDRODYSPLASIA_PUNCTATA_2,_X-LINKED | 1 | CHONDRODYSPLASIA_PUNCTATA_2,_X-LINKED |
| ECTODERMAL_DYSPLASIA_TYPE_1 | 1 | ECTODERMAL_DYSPLASIA_TYPE_1 |
| TOOTH_AGENESIS_SELECTIVE_X-LINKED_TYPE_1 | 1 | TOOTH_AGENESIS_SELECTIVE_X-LINKED_TYPE_1 |
| ABCD_SYNDROME | 1 | ABCD_SYNDROME |
| CRANIOFRONTONASAL_SYNDROME | 1 | CRANIOFRONTONASAL_SYNDROME |
| ELN-RELATED_CUTIS_LAXA | 1 | ELN-RELATED_CUTIS_LAXA |
| RUBINSTEIN-TAYBI_SYNDROME_TYPE_2 | 1 | RUBINSTEIN-TAYBI_SYNDROME_TYPE_2 |
| CEREBRO-OCULO-FACIO-SKELETAL_SYNDROME_TYPE_2 | 1 | CEREBRO-OCULO-FACIO-SKELETAL_SYNDROME_TYPE_2 |
| ERCC3-related_xeroderma_pigmentosum,_group_B | 1 | ERCC3-related_xeroderma_pigmentosum,_group_B |
| COCKAYNE_SYNDROME_TYPE_B | 1 | COCKAYNE_SYNDROME_TYPE_B |
| COCKAYNE_SYNDROME_TYPE_A | 1 | COCKAYNE_SYNDROME_TYPE_A |
| ROBERTS_SYNDROME | 1 | ROBERTS_SYNDROME |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_A | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_A |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_C | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_C |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_D2 | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_D2 |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_E | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_E |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_F | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_F |
| FBN1-related_isolated_ectopia_lentis | 1 | FBN1-related_isolated_ectopia_lentis |
| FBN1-related_Marfan_syndrome | 1 | FBN1-related_Marfan_syndrome |
| FBN1-related_Weill-Marchesani_syndrome | 1 | FBN1-related_Weill-Marchesani_syndrome |
| FGFR2-related_Pfeiffer_syndrome | 1 | FGFR2-related_Pfeiffer_syndrome |
| APERT_SYNDROME | 1 | APERT_SYNDROME |
| BEARE-STEVENSON_CUTIS_GYRATA_SYNDROME | 1 | BEARE-STEVENSON_CUTIS_GYRATA_SYNDROME |
| CROUZON_SYNDROME | 1 | CROUZON_SYNDROME |
| JACKSON-WEISS_SYNDROME | 1 | JACKSON-WEISS_SYNDROME |
| FGFR2-related_lacrimo-auriculo-dento-digital_syndrome | 1 | FGFR2-related_lacrimo-auriculo-dento-digital_syndrome |
| FUMARASE_DEFICIENCY | 1 | FUMARASE_DEFICIENCY |
| LEIOMYOMATOSIS_AND_RENAL_CELL_CANCER | 1 | LEIOMYOMATOSIS_AND_RENAL_CELL_CANCER |
| BIRT-HOGG-DUBE_SYNDROME | 1 | BIRT-HOGG-DUBE_SYNDROME |
| ICHTHYOSIS_VULGARIS | 1 | ICHTHYOSIS_VULGARIS |
| MELNICK-NEEDLES_SYNDROME | 1 | MELNICK-NEEDLES_SYNDROME |
| FLNA-related_otopalatodigital_syndrome | 1 | FLNA-related_otopalatodigital_syndrome |
| PERIVENTRICULAR_NODULAR_HETEROTOPIA_TYPE_1 | 1 | PERIVENTRICULAR_NODULAR_HETEROTOPIA_TYPE_1 |
| TERMINAL_OSSEOUS_DYSPLASIA | 1 | TERMINAL_OSSEOUS_DYSPLASIA |
| MILROY_DISEASE | 1 | MILROY_DISEASE |
| LYMPHEDEMA-DISTICHIASIS_SYNDROME | 1 | LYMPHEDEMA-DISTICHIASIS_SYNDROME |
| IPEX_SYNDROME | 1 | IPEX_SYNDROME |
| FUCOSIDOSIS | 1 | FUCOSIDOSIS |
| GAUCHER_DISEASE_PERINATAL_LETHAL | 1 | GAUCHER_DISEASE_PERINATAL_LETHAL |
| GJA1-related_oculodentodigital_dysplasia | 1 | GJA1-related_oculodentodigital_dysplasia |
| HALLERMANN-STREIFF_SYNDROME | 1 | HALLERMANN-STREIFF_SYNDROME |
| HYPOPLASTIC_LEFT_HEART_SYNDROME | 1 | HYPOPLASTIC_LEFT_HEART_SYNDROME |
| GJB2-related_knuckle_pads,_leuconychia_and_sensorineural_deafness | 1 | GJB2-related_knuckle_pads,_leuconychia_and_sensorineural_deafness |
| DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1A | 1 | DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1A |
| ICHTHYOSIS_HYSTRIX-LIKE_WITH_DEAFNESS_SYNDROME | 1 | ICHTHYOSIS_HYSTRIX-LIKE_WITH_DEAFNESS_SYNDROME |
| PALMOPLANTAR_KERATODERMA_WITH_DEAFNESS | 1 | PALMOPLANTAR_KERATODERMA_WITH_DEAFNESS |
| GJB2-related_Vohwinkel_syndrome | 1 | GJB2-related_Vohwinkel_syndrome |
| DEAFNESS,_AUTOSOMAL_RECESSIVE | 1 | DEAFNESS,_AUTOSOMAL_RECESSIVE |
| DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_2B | 1 | DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_2B |
| ERYTHROKERATODERMIA_VARIABILIS_ET_PROGRESSIVA | 1 | ERYTHROKERATODERMIA_VARIABILIS_ET_PROGRESSIVA |
| DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1B | 1 | DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_1B |
| GM1-GANGLIOSIDOSIS_TYPE_3 | 1 | GM1-GANGLIOSIDOSIS_TYPE_3 |
| GLOMUVENOUS_MALFORMATIONS | 1 | GLOMUVENOUS_MALFORMATIONS |
| MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_A | 1 | MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_A |
| MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_C | 1 | MUCOLIPIDOSIS_TYPE_III_COMPLEMENTATION_GROUP_C |
| SIMPSON-GOLABI-BEHMEL_SYNDROME,_TYPE_1 | 1 | SIMPSON-GOLABI-BEHMEL_SYNDROME,_TYPE_1 |
| HCCS-related_linear_skin_defects_with_microphthalmia | 1 | HCCS-related_linear_skin_defects_with_microphthalmia |
| HOLOCARBOXYLASE_SYNTHETASE_DEFICIENCY | 1 | HOLOCARBOXYLASE_SYNTHETASE_DEFICIENCY |
| HPS1-related_Hermansky-Pudlak_syndrome | 1 | HPS1-related_Hermansky-Pudlak_syndrome |
| ALOPECIA_UNIVERSALIS | 1 | ALOPECIA_UNIVERSALIS |
| ATRICHIA_WITH_PAPULAR_LESIONS | 1 | ATRICHIA_WITH_PAPULAR_LESIONS |
| CONGENITAL_MYOPATHY_WITH_EXCESS_OF_MUSCLE_SPINDLES | 1 | CONGENITAL_MYOPATHY_WITH_EXCESS_OF_MUSCLE_SPINDLES |
| COSTELLO_SYNDROME | 1 | COSTELLO_SYNDROME |
| POPLITEAL_PTERYGIUM_SYNDROME | 1 | POPLITEAL_PTERYGIUM_SYNDROME |
| EPIDERMOLYSIS_BULLOSA_WITH_PYLORIC_ATRESIA | 1 | EPIDERMOLYSIS_BULLOSA_WITH_PYLORIC_ATRESIA |
| FAMILIAL_GIST_(GASTRO-INTESTINAL_STROMAL_TUMOURS) | 1 | FAMILIAL_GIST_(GASTRO-INTESTINAL_STROMAL_TUMOURS) |
| HUMAN_PIEBALDISM | 1 | HUMAN_PIEBALDISM |
| NOONAN_SYNDROME_TYPE_3 | 1 | NOONAN_SYNDROME_TYPE_3 |
| COBBLESTONE_BRAIN_MALFORMATION_WITHOUT_MUSCULAR_OR_OCULAR_ABNORMALITIES | 1 | COBBLESTONE_BRAIN_MALFORMATION_WITHOUT_MUSCULAR_OR_OCULAR_ABNORMALITIES |
| BUSCHKE-OLLENDORFF_SYNDROME | 1 | BUSCHKE-OLLENDORFF_SYNDROME |
| LIG4_SYNDROME | 1 | LIG4_SYNDROME |
| CHARCOT-MARIE-TOOTH_DISEASE_TYPE_2B1 | 1 | CHARCOT-MARIE-TOOTH_DISEASE_TYPE_2B1 |
| EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_TYPE_2 | 1 | EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_TYPE_2 |
| HEART-HAND_SYNDROME_SLOVENIAN_TYPE | 1 | HEART-HAND_SYNDROME_SLOVENIAN_TYPE |
| HUTCHINSON-GILFORD_PROGERIA_SYNDROME | 1 | HUTCHINSON-GILFORD_PROGERIA_SYNDROME |
| LETHAL_TIGHT_SKIN_CONTRACTURE_SYNDROME | 1 | LETHAL_TIGHT_SKIN_CONTRACTURE_SYNDROME |
| NAIL-PATELLA_SYNDROME | 1 | NAIL-PATELLA_SYNDROME |
| CHEDIAK-HIGASHI_SYNDROME | 1 | CHEDIAK-HIGASHI_SYNDROME |
| LYSOSOMAL_ALPHA-MANNOSIDOSIS | 1 | LYSOSOMAL_ALPHA-MANNOSIDOSIS |
| GLUCOCORTICOID_DEFICIENCY_1 | 1 | GLUCOCORTICOID_DEFICIENCY_1 |
| MULTIPLE_ENDOCRINE_NEOPLASIA_1 | 1 | MULTIPLE_ENDOCRINE_NEOPLASIA_1 |
| Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness_(COMMAD) | 1 | Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness_(COMMAD) |
| TIETZ_SYNDROME | 1 | TIETZ_SYNDROME |
| WAARDENBURG_SYNDROME_TYPE_2A | 1 | WAARDENBURG_SYNDROME_TYPE_2A |
| CARNEY_COMPLEX_VARIANT | 1 | CARNEY_COMPLEX_VARIANT |
| MYH8-related_Trismus-pseudocamptodactyly_syndrome | 1 | MYH8-related_Trismus-pseudocamptodactyly_syndrome |
| GRISCELLI_SYNDROME_TYPE_3 | 1 | GRISCELLI_SYNDROME_TYPE_3 |
| KANZAKI_DISEASE | 1 | KANZAKI_DISEASE |
| MUCOPOLYSACCHARIDOSIS_TYPE_3B | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_3B |
| NEUROFIBROMATOSIS_TYPE_1 | 1 | NEUROFIBROMATOSIS_TYPE_1 |
| CORNELIA_DE_LANGE_SYNDROME_TYPE_1 | 1 | CORNELIA_DE_LANGE_SYNDROME_TYPE_1 |
| INFANTILE_MYOFIBROMATOSIS | 1 | INFANTILE_MYOFIBROMATOSIS |
| ACROMESOMELIC_DYSPLASIA_MAROTEAUX_TYPE | 1 | ACROMESOMELIC_DYSPLASIA_MAROTEAUX_TYPE |
| SOTOS_SYNDROME | 1 | SOTOS_SYNDROME |
| CK_SYNDROME | 1 | CK_SYNDROME |
| CONGENITAL_HEMIDYSPLASIA_WITH_ICHTHYOSIFORM_ERYTHRODERMA_AND_LIMB_DEFECTS | 1 | CONGENITAL_HEMIDYSPLASIA_WITH_ICHTHYOSIFORM_ERYTHRODERMA_AND_LIMB_DEFECTS |
| CONGENITAL_INSENSITIVITY_TO_PAIN_WITH_ANHIDROSIS | 1 | CONGENITAL_INSENSITIVITY_TO_PAIN_WITH_ANHIDROSIS |
| NON-PHENYLKETONURIA_HYPERPHENYLALANINEMIA | 1 | NON-PHENYLKETONURIA_HYPERPHENYLALANINEMIA |
| CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_3 | 1 | CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_3 |
| PROLIDASE_DEFICIENCY | 1 | PROLIDASE_DEFICIENCY |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_1 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_1 |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_5 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_5 |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_11 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_11 |
| PMS2-related_Lynch_syndrome | 1 | PMS2-related_Lynch_syndrome |
| MISMATCH_REPAIR_CANCER_SYNDROME | 1 | MISMATCH_REPAIR_CANCER_SYNDROME |
| CARNEY_COMPLEX,_TYPE_1 | 1 | CARNEY_COMPLEX,_TYPE_1 |
| LHERMITTE-DUCLOS_DISEASE | 1 | LHERMITTE-DUCLOS_DISEASE |
| PTPN11-related_Noonan_Syndrome_with_Multiple_Lentigines | 1 | PTPN11-related_Noonan_Syndrome_with_Multiple_Lentigines |
| NOONAN_SYNDROME_1 | 1 | NOONAN_SYNDROME_1 |
| BALLER-GEROLD_SYNDROME | 1 | BALLER-GEROLD_SYNDROME |
| MEDULLARY_THYROID_CARCINOMA | 1 | MEDULLARY_THYROID_CARCINOMA |
| MULTIPLE_ENDOCRINE_NEOPLASIA_IIA | 1 | MULTIPLE_ENDOCRINE_NEOPLASIA_IIA |
| MULTIPLE_ENDOCRINE_NEOPLASIA_IIB | 1 | MULTIPLE_ENDOCRINE_NEOPLASIA_IIB |
| RENAL_AGENESIS | 1 | RENAL_AGENESIS |
| CARTILAGE-HAIR_HYPOPLASIA | 1 | CARTILAGE-HAIR_HYPOPLASIA |
| GASTROINTESTINAL_STROMAL_TUMOR | 1 | GASTROINTESTINAL_STROMAL_TUMOR |
| PARAGANGLIOMA_AND_GASTRIC_STROMAL_SARCOMA | 1 | PARAGANGLIOMA_AND_GASTRIC_STROMAL_SARCOMA |
| CARCINOID_TUMORS,_INTESTINAL | 1 | CARCINOID_TUMORS,_INTESTINAL |
| PARAGANGLIOMAS_1,_WITH_OR_WITHOUT_DEAFNESS | 1 | PARAGANGLIOMAS_1,_WITH_OR_WITHOUT_DEAFNESS |
| MUCOPOLYSACCHARIDOSIS_TYPE_3A | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_3A |
| SALLA_DISEASE | 1 | SALLA_DISEASE |
| SCHIMKE_IMMUNOOSSEOUS_DYSPLASIA | 1 | SCHIMKE_IMMUNOOSSEOUS_DYSPLASIA |
| NIEMANN-PICK_DISEASE_TYPE_A | 1 | NIEMANN-PICK_DISEASE_TYPE_A |
| CEDNIK_SYNDROME | 1 | CEDNIK_SYNDROME |
| MICROPHTHALMIA_SYNDROMIC_TYPE_8 | 1 | MICROPHTHALMIA_SYNDROMIC_TYPE_8 |
| PERIPHERAL_DEMYELINATING_NEUROPATHY,_CENTRAL_DYSMYELINATING_LEUKODYSTROPHY,_WAARDENBURG_SYNDROME,_AND_HIRSCHSPRUNG_DISEASE | 1 | PERIPHERAL_DEMYELINATING_NEUROPATHY,_CENTRAL_DYSMYELINATING_LEUKODYSTROPHY,_WAARDENBURG_SYNDROME,_AND_HIRSCHSPRUNG_DISEASE |
| WAARDENBURG_SYNDROME_TYPE_2E | 1 | WAARDENBURG_SYNDROME_TYPE_2E |
| YEMENITE_DEAF-BLIND_HYPOPIGMENTATION_SYNDROME | 1 | YEMENITE_DEAF-BLIND_HYPOPIGMENTATION_SYNDROME |
| PANCREATIC_CANCER | 1 | PANCREATIC_CANCER |
| ICHTHYOSIS,_X-LINKED | 1 | ICHTHYOSIS,_X-LINKED |
| TYROSINEMIA_TYPE_2 | 1 | TYROSINEMIA_TYPE_2 |
| TERC-related_dyskeratosis_congenita | 1 | TERC-related_dyskeratosis_congenita |
| ECTODERMAL_DYSPLASIA_RAPP-HODGKIN_TYPE | 1 | ECTODERMAL_DYSPLASIA_RAPP-HODGKIN_TYPE |
| TP63-related_ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome | 1 | TP63-related_ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome |
| MULIBREY_NANISM | 1 | MULIBREY_NANISM |
| TSC1-related_tuberous_sclerosis | 1 | TSC1-related_tuberous_sclerosis |
| TSC2-related_tuberous_sclerosis | 1 | TSC2-related_tuberous_sclerosis |
| OCULOCUTANEOUS_ALBINISM_TYPE_1 | 1 | OCULOCUTANEOUS_ALBINISM_TYPE_1 |
| ANGELMAN_SYNDROME | 1 | ANGELMAN_SYNDROME |
| JOHANSON-BLIZZARD_SYNDROME | 1 | JOHANSON-BLIZZARD_SYNDROME |
| CONGENITAL_ERYTHROPOIETIC_PORPHYRIA | 1 | CONGENITAL_ERYTHROPOIETIC_PORPHYRIA |
| RICKETS_VITAMIN_D-DEPENDENT_TYPE_2A | 1 | RICKETS_VITAMIN_D-DEPENDENT_TYPE_2A |
| VON_HIPPEL-LINDAU_SYNDROME | 1 | VON_HIPPEL-LINDAU_SYNDROME |
| XERODERMA_PIGMENTOSUM,_GROUP_A | 1 | XERODERMA_PIGMENTOSUM,_GROUP_A |
| XERODERMA_PIGMENTOSUM,_GROUP_C | 1 | XERODERMA_PIGMENTOSUM,_GROUP_C |
| LETHAL_RESTRICTIVE_DERMOPATHY,_ZMPSTE24-RELATED | 1 | LETHAL_RESTRICTIVE_DERMOPATHY,_ZMPSTE24-RELATED |
| SEBORRHEA-LIKE_DERMATITIS_WITH_PSORIASIFORM_ELEMENTS | 1 | SEBORRHEA-LIKE_DERMATITIS_WITH_PSORIASIFORM_ELEMENTS |
| FGFR3-related_Crouzon_syndrome_with_acanthosis_nigricans | 1 | FGFR3-related_Crouzon_syndrome_with_acanthosis_nigricans |
| Acanthosis_Nigricans_and_insulin_resistance_syndrome | 1 | Acanthosis_Nigricans_and_insulin_resistance_syndrome |
| Acanthosis_Nigricans_and_insulin_resistance_syndrome_+_hypertension | 1 | Acanthosis_Nigricans_and_insulin_resistance_syndrome_+_hypertension |
| Acrodermatitis_enteropathica,_zinc_deficiency_type | 1 | Acrodermatitis_enteropathica,_zinc_deficiency_type |
| Acrokeratosis_verruciformis | 1 | Acrokeratosis_verruciformis |
| Adrenal_hypoplasia,_congenital | 1 | Adrenal_hypoplasia,_congenital |
| Albinism_(oculo-cutaneous_type_2) | 1 | Albinism_(oculo-cutaneous_type_2) |
| Albinism_(oculocutaneous_type_4) | 1 | Albinism_(oculocutaneous_type_4) |
| POLA1-related_pigmentary_disorder,_reticulate,_with_systemic_manifestations | 1 | POLA1-related_pigmentary_disorder,_reticulate,_with_systemic_manifestations |
| Amyloidosis,_familial_visceral | 1 | Amyloidosis,_familial_visceral |
| Angioneurotic_oedema,_hereditary,_with_normal_C1_inhibitor_concentration_and_function | 1 | Angioneurotic_oedema,_hereditary,_with_normal_C1_inhibitor_concentration_and_function |
| ARTERIAL_TORTUOSITY_SYNDROME | 1 | ARTERIAL_TORTUOSITY_SYNDROME |
| Autoimmune_lymphoproliferative_syndrome_type_IA | 1 | Autoimmune_lymphoproliferative_syndrome_type_IA |
| Autoimmune_lymphoproliferative_syndrome_type_IIA | 1 | Autoimmune_lymphoproliferative_syndrome_type_IIA |
| Bare_lymphocyte_syndrome_type_1 | 1 | Bare_lymphocyte_syndrome_type_1 |
| CDKN1C-related_Beckwith-Wiedemann_syndrome | 1 | CDKN1C-related_Beckwith-Wiedemann_syndrome |
| BLOOM_SYNDROME | 1 | BLOOM_SYNDROME |
| Calcinosis,_tumoral_with_hyperphosphataemia | 1 | Calcinosis,_tumoral_with_hyperphosphataemia |
| Carboxypeptidase_N_deficiency | 1 | Carboxypeptidase_N_deficiency |
| Cerebral_autosomal_dominant_arteiopathy_with_subcortical_infarcts_and_leukencephalopathy | 1 | Cerebral_autosomal_dominant_arteiopathy_with_subcortical_infarcts_and_leukencephalopathy |
| Cerebral_cavernous_malformation_1 | 1 | Cerebral_cavernous_malformation_1 |
| Cerebral_cavernous_malformation_2 | 1 | Cerebral_cavernous_malformation_2 |
| Cerebrotendinous_xanthomatosis | 1 | Cerebrotendinous_xanthomatosis |
| Chronic_granulomatous_disease_X_linked | 1 | Chronic_granulomatous_disease_X_linked |
| Chronic_granulomatous_disease_AR_cytochrome_b_negative | 1 | Chronic_granulomatous_disease_AR_cytochrome_b_negative |
| Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_I | 1 | Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_I |
| Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_II | 1 | Chronic_granulomatous_disease_AR_cytochrome_b_positive_type_II |
| Chronic_neurologic_cutaneous_and_articular_syndrome_(CINCA) | 1 | Chronic_neurologic_cutaneous_and_articular_syndrome_(CINCA) |
| RPS6KA3-related_Coffin-Lowry_syndrome | 1 | RPS6KA3-related_Coffin-Lowry_syndrome |
| Cold_induced_sweating_syndrome | 1 | Cold_induced_sweating_syndrome |
| Cold_urticaria,_familial | 1 | Cold_urticaria,_familial |
| Cutis_gyrata_Beare_stevenson | 1 | Cutis_gyrata_Beare_stevenson |
| Cutis_laxa_type_I_autosomal_recessive | 1 | Cutis_laxa_type_I_autosomal_recessive |
| Cutis_laxa_X_linked/Occipital_Horn_Syndrome | 1 | Cutis_laxa_X_linked/Occipital_Horn_Syndrome |
| Cutis_laxa_autosomal_dominant_2 | 1 | Cutis_laxa_autosomal_dominant_2 |
| CYLINDROMATOSIS,_FAMILIAL | 1 | CYLINDROMATOSIS,_FAMILIAL |
| Dowling-Degos_disease | 1 | Dowling-Degos_disease |
| EDAR-related_hypohidrotic_ectodermal_dysplasia | 1 | EDAR-related_hypohidrotic_ectodermal_dysplasia |
| GJB6-related_ectodermal_dysplasia,_Clouston_type | 1 | GJB6-related_ectodermal_dysplasia,_Clouston_type |
| IKBKG-related_ectodermal_dysplasia_and_immunodeficiency | 1 | IKBKG-related_ectodermal_dysplasia_and_immunodeficiency |
| Ectodermal_dysplasia,_cleft_lip/palate | 1 | Ectodermal_dysplasia,_cleft_lip/palate |
| Ectodermal_dysplasia_+_skin_fragility_(McGrath_syndrome) | 1 | Ectodermal_dysplasia_+_skin_fragility_(McGrath_syndrome) |
| Ectodermal_dysplasia,_pure_hair/nail_type | 1 | Ectodermal_dysplasia,_pure_hair/nail_type |
| COL5A1-related_classical_Ehlers_Danlos_syndrome | 1 | COL5A1-related_classical_Ehlers_Danlos_syndrome |
| Classical-like_Ehlers_Danlos_syndrome | 1 | Classical-like_Ehlers_Danlos_syndrome |
| Kyphoscoliotic_Ehlers_Danlos_Syndrome | 1 | Kyphoscoliotic_Ehlers_Danlos_Syndrome |
| Dermatosparaxis_Ehlers_Danlos_syndrome | 1 | Dermatosparaxis_Ehlers_Danlos_syndrome |
| Ehlers_Danlos,_cardiac_valvular_form | 1 | Ehlers_Danlos,_cardiac_valvular_form |
| Spondylodysplastic_Ehlers_Danlos_syndrome | 1 | Spondylodysplastic_Ehlers_Danlos_syndrome |
| Erythromelalgia,_primary | 1 | Erythromelalgia,_primary |
| Fabry_disease | 1 | Fabry_disease |
| Familial_cold_autoinflammatory_syndrome | 1 | Familial_cold_autoinflammatory_syndrome |
| Familial_mediterranean_fever | 1 | Familial_mediterranean_fever |
| FANCONI-BICKEL_SYNDROME | 1 | FANCONI-BICKEL_SYNDROME |
| FANCB-related_Fanconi_anemia | 1 | FANCB-related_Fanconi_anemia |
| FANCG-related_Fanconi_anemia | 1 | FANCG-related_Fanconi_anemia |
| Fanconi_pancytopaenia_H | 1 | Fanconi_pancytopaenia_H |
| ASAH1-related_Farber_lipogranulomatosis | 1 | ASAH1-related_Farber_lipogranulomatosis |
| OPITZ-KAVEGGIA_SYNDROME | 1 | OPITZ-KAVEGGIA_SYNDROME |
| Giant_axonal_neuropathy_1 | 1 | Giant_axonal_neuropathy_1 |
| Glucocorticoid_deficiency_2 | 1 | Glucocorticoid_deficiency_2 |
| Glycogen_storage_disease_I | 1 | Glycogen_storage_disease_I |
| Glycogen_storage_disease_Ib | 1 | Glycogen_storage_disease_Ib |
| Griscelli_Type_2 | 1 | Griscelli_Type_2 |
| Griscelli_Type_3 | 1 | Griscelli_Type_3 |
| Haemochromatosis_type_1 | 1 | Haemochromatosis_type_1 |
| Haemochromatosis_type_2B_(juvenile) | 1 | Haemochromatosis_type_2B_(juvenile) |
| Haemochromatosis_type_3 | 1 | Haemochromatosis_type_3 |
| Haemochromatosis_type_4 | 1 | Haemochromatosis_type_4 |
| Hailey-Hailey_disease | 1 | Hailey-Hailey_disease |
| SMAD4-related_juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome | 1 | SMAD4-related_juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome |
| Ichthyosis_Bullosa_of_Siemens | 1 | Ichthyosis_Bullosa_of_Siemens |
| Kindler_syndrome | 1 | Kindler_syndrome |
| SIMPSON-GOLABI-BEHMEL_SYNDROME_TYPE_2 | 1 | SIMPSON-GOLABI-BEHMEL_SYNDROME_TYPE_2 |
| Skin_fragility,_Woolly_Hair | 1 | Skin_fragility,_Woolly_Hair |
| Steatocystoma_multiplex | 1 | Steatocystoma_multiplex |
| Stuve-Wiedeman_syndrome | 1 | Stuve-Wiedeman_syndrome |
| NOD2-related_granulomatous_synovitis_with_uveitis | 1 | NOD2-related_granulomatous_synovitis_with_uveitis |
| Transaldolase_deficiency | 1 | Transaldolase_deficiency |
| Trichorhinopharangeal_syndrome_I | 1 | Trichorhinopharangeal_syndrome_I |
| Trichorhinopharangeal_syndrome_II_(Langer-Giedon) | 1 | Trichorhinopharangeal_syndrome_II_(Langer-Giedon) |
| VENOUS_MALFORMATIONS,_MULTIPLE_CUTANEOUS_AND_MUCOSAL | 1 | VENOUS_MALFORMATIONS,_MULTIPLE_CUTANEOUS_AND_MUCOSAL |
| Vitamin_E,_familial_isolated_deficiency_of | 1 | Vitamin_E,_familial_isolated_deficiency_of |
| PAX3-related_Waardenburg_syndrome | 1 | PAX3-related_Waardenburg_syndrome |
| Waardenburg_syndrome_type_IID | 1 | Waardenburg_syndrome_type_IID |
| Waardenburg-Shah_syndrome,_neurologic_variant | 1 | Waardenburg-Shah_syndrome,_neurologic_variant |
| ADAMTS10-related_Weill-Marchesani_syndrome | 1 | ADAMTS10-related_Weill-Marchesani_syndrome |
| WERNER_SYNDROME | 1 | WERNER_SYNDROME |
| Warts,_hypogammaglobulinaemia,_infections_and_myelokathexis_syndrome | 1 | Warts,_hypogammaglobulinaemia,_infections_and_myelokathexis_syndrome |
| Wiskott-Aldrich_syndrome | 1 | Wiskott-Aldrich_syndrome |
| Wrinkly_skin_syndrome | 1 | Wrinkly_skin_syndrome |
| Xeroderma_pigmentosum_group_F | 1 | Xeroderma_pigmentosum_group_F |
| ERCC5-related_xeroderma_pigmentosum,_group_G | 1 | ERCC5-related_xeroderma_pigmentosum,_group_G |
| Xeroderma_pigmentosum_group_variant | 1 | Xeroderma_pigmentosum_group_variant |
| Haemochromatosis_type_2A_(juvenile) | 1 | Haemochromatosis_type_2A_(juvenile) |
| Albinism_(oculo-cutaneous_type_3) | 1 | Albinism_(oculo-cutaneous_type_3) |
| Rothmund-Thomson_Syndrome_Type_1 | 1 | Rothmund-Thomson_Syndrome_Type_1 |
| Epidermolysis_Bullosa_(Bart_Type) | 1 | Epidermolysis_Bullosa_(Bart_Type) |
| Melanoma-pancreatic_cancer_syndrome | 1 | Melanoma-pancreatic_cancer_syndrome |
| BLOC1S3-related_Hermansky-Pudlak_syndrome | 1 | BLOC1S3-related_Hermansky-Pudlak_syndrome |
| Kaposi_sarcoma | 1 | Kaposi_sarcoma |
| Keratosis_follicularis_spinulosa_decalvans | 1 | Keratosis_follicularis_spinulosa_decalvans |
| Laryngoonychocutaneous_syndrome | 1 | Laryngoonychocutaneous_syndrome |
| Leprechaunism | 1 | Leprechaunism |
| LESCH-NYHAN_SYNDROME | 1 | LESCH-NYHAN_SYNDROME |
| Lipodystrophy,_congenital_generalised_type_1 | 1 | Lipodystrophy,_congenital_generalised_type_1 |
| Lipodystrophy,_congenital_generalised_type_2 | 1 | Lipodystrophy,_congenital_generalised_type_2 |
| Lipodystrophy,_familial_partial_type_2 | 1 | Lipodystrophy,_familial_partial_type_2 |
| Lipodystrophy,_familial_partial_type_3 | 1 | Lipodystrophy,_familial_partial_type_3 |
| ECM1-related_lipoid_proteinosis | 1 | ECM1-related_lipoid_proteinosis |
| Prader-Willi_syndrome | 1 | Prader-Willi_syndrome |
| Psoriasis_susceptibilty_2 | 1 | Psoriasis_susceptibilty_2 |
| Epidermolysis_Bullosa_Simplex_(Weber_Cockayne) | 1 | Epidermolysis_Bullosa_Simplex_(Weber_Cockayne) |
| Epidermolysis_Bullosa_Simplex_(Mottled_pigmentation) | 1 | Epidermolysis_Bullosa_Simplex_(Mottled_pigmentation) |
| Epidermolysis_Bullosa_Simplex_(recessive) | 1 | Epidermolysis_Bullosa_Simplex_(recessive) |
| Epidermolysis_Bullosa_Simplex_and_limb-girdle_muscular_dystrophy | 1 | Epidermolysis_Bullosa_Simplex_and_limb-girdle_muscular_dystrophy |
| Epidermolysis_Bullosa_Simplex_(Ogna) | 1 | Epidermolysis_Bullosa_Simplex_(Ogna) |
| COL7A1-related_epidermolysis_bullosa_dystrophica | 1 | COL7A1-related_epidermolysis_bullosa_dystrophica |
| Epidermolysis_Bullosa_Dystrophica_(dominant) | 1 | Epidermolysis_Bullosa_Dystrophica_(dominant) |
| Epithelioma,_Ferguson-Smith_(multiple_self_healing_squamous_epithelioma) | 1 | Epithelioma,_Ferguson-Smith_(multiple_self_healing_squamous_epithelioma) |
| Haim-Munk_syndrome | 1 | Haim-Munk_syndrome |
| Hartnup_disease | 1 | Hartnup_disease |
| HPS4-related_Hermansky-Pudlak_syndrome | 1 | HPS4-related_Hermansky-Pudlak_syndrome |
| HPS5-related_Hermansky-Pudlak_syndrome | 1 | HPS5-related_Hermansky-Pudlak_syndrome |
| HPS6-related_Hermansky-Pudlak_syndrome | 1 | HPS6-related_Hermansky-Pudlak_syndrome |
| DTNBP1-related_Hermansky-Pudlak_syndrome | 1 | DTNBP1-related_Hermansky-Pudlak_syndrome |
| Multiple_sulphatase_deficiency | 1 | Multiple_sulphatase_deficiency |
| Myotonic_dystrophy_2 | 1 | Myotonic_dystrophy_2 |
| Naegeli_syndrome | 1 | Naegeli_syndrome |
| Netherton_syndrome | 1 | Netherton_syndrome |
| Neuropathy,_hereditary_sensory_and_autonomic,_type_II | 1 | Neuropathy,_hereditary_sensory_and_autonomic,_type_II |
| Neuropathy,_hereditary_sensory_and_autonomic,_type_III | 1 | Neuropathy,_hereditary_sensory_and_autonomic,_type_III |
| Nijmegan_breakage_syndrome | 1 | Nijmegan_breakage_syndrome |
| OSSEOUS_HETEROPLASIA,_PROGRESSIVE | 1 | OSSEOUS_HETEROPLASIA,_PROGRESSIVE |
| Osteogenesis_imperfecta_type_IV | 1 | Osteogenesis_imperfecta_type_IV |
| Osteogenesis_imperfecta_congenita_type_II | 1 | Osteogenesis_imperfecta_congenita_type_II |
| LOWE_OCULOCEREBRORENAL_SYNDROME | 1 | LOWE_OCULOCEREBRORENAL_SYNDROME |
| Hypercholesterolaemia,_autosomal_dominant | 1 | Hypercholesterolaemia,_autosomal_dominant |
| Hypercholesterolaemia,_autosomal_dominant,_type_B | 1 | Hypercholesterolaemia,_autosomal_dominant,_type_B |
| Hypercholesterolaemia,_autosomal_recessive,_1 | 1 | Hypercholesterolaemia,_autosomal_recessive,_1 |
| Hyperlipoproteinaemia_type_1 | 1 | Hyperlipoproteinaemia_type_1 |
| Hyperlipoproteinaemia,_type_IB | 1 | Hyperlipoproteinaemia,_type_IB |
| Hyper_IgD_syndrome | 1 | Hyper_IgD_syndrome |
| Hypotrichosis,_localised_autosomal_recessive | 1 | Hypotrichosis,_localised_autosomal_recessive |
| Hypotrichosis-lymphoedema-telangiectasia_syndrome | 1 | Hypotrichosis-lymphoedema-telangiectasia_syndrome |
| Hypotrichosis_simplex_of_the_scalp | 1 | Hypotrichosis_simplex_of_the_scalp |
| Congenital_ichthyosis_type_1 | 1 | Congenital_ichthyosis_type_1 |
| Congenital_ichthyosis_type_2 | 1 | Congenital_ichthyosis_type_2 |
| Congenital_ichthyosis_type_3 | 1 | Congenital_ichthyosis_type_3 |
| Ichthyosis,_congenital,_autosomal_recessive | 1 | Ichthyosis,_congenital,_autosomal_recessive |
| Ichthyosis_harlequin | 1 | Ichthyosis_harlequin |
| Ichthyosis_hystrix,_Curth-Macklin_type | 1 | Ichthyosis_hystrix,_Curth-Macklin_type |
| Ichthyosis,_leucocyte_vacuoles,_alopecia_and_sclerosing_cholangitis | 1 | Ichthyosis,_leucocyte_vacuoles,_alopecia_and_sclerosing_cholangitis |
| ABHD5-related_ichthyotic_neutral_lipid_storage_disease | 1 | ABHD5-related_ichthyotic_neutral_lipid_storage_disease |
| INCONTINENTIA_PIGMENTI | 1 | INCONTINENTIA_PIGMENTI |
| Juvenile_hyaline_fibromatosis | 1 | Juvenile_hyaline_fibromatosis |
| PPK_Vorner-Unna-Thost_(epidermolytic) | 1 | PPK_Vorner-Unna-Thost_(epidermolytic) |
| PPK_(Bothnia) | 1 | PPK_(Bothnia) |
| PPK_Mal_de_Meleda_(transgrediens) | 1 | PPK_Mal_de_Meleda_(transgrediens) |
| PPK_Naxos_(+_woolly_hair_+_ECG_abnormalities,_NAXOS_disease) | 1 | PPK_Naxos_(+_woolly_hair_+_ECG_abnormalities,_NAXOS_disease) |
| PPK_+_oesophageal_cancer | 1 | PPK_+_oesophageal_cancer |
| PPK_Vohwinkel+ichthyosis_(variant) | 1 | PPK_Vohwinkel+ichthyosis_(variant) |
| Peeling_skin_syndrome,_acral_type | 1 | Peeling_skin_syndrome,_acral_type |
| Periodic_fever,_familial,_autosomal_dominant | 1 | Periodic_fever,_familial,_autosomal_dominant |
| Pyogenic_sterile_arthritis,_pyoderma_gangrenosum_and_acne | 1 | Pyogenic_sterile_arthritis,_pyoderma_gangrenosum_and_acne |
| RAPP-HODGKIN_SYNDROME | 1 | RAPP-HODGKIN_SYNDROME |
| REFSUM_DISEASE | 1 | REFSUM_DISEASE |
| Restrictive_dermopathy,_lethal | 1 | Restrictive_dermopathy,_lethal |
| Trichothiodystrophy,_non_photosensitive | 1 | Trichothiodystrophy,_non_photosensitive |
| Epidermolysis_Bullosa_Junctional_(atrophic_benign) | 1 | Epidermolysis_Bullosa_Junctional_(atrophic_benign) |
| Epidermolysis_Bullosa_Junctional | 1 | Epidermolysis_Bullosa_Junctional |
| Epidermolysis_Bullosa_Pruriginosa | 1 | Epidermolysis_Bullosa_Pruriginosa |
| CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IB | 1 | CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IB |
| Autoimmune_lymphoproliferative_syndrome_type_IA_(biallelic,_dominant_negative) | 1 | Autoimmune_lymphoproliferative_syndrome_type_IA_(biallelic,_dominant_negative) |
| Autoimmune_lymphoproliferative_syndrome_type_IA_(mosaic,_dominant_negative) | 1 | Autoimmune_lymphoproliferative_syndrome_type_IA_(mosaic,_dominant_negative) |
| SJOGREN-LARSSON_SYNDROME | 1 | SJOGREN-LARSSON_SYNDROME |
| MCCUNE-ALBRIGHT_SYNDROME | 1 | MCCUNE-ALBRIGHT_SYNDROME |
| ATAXIA_TELANGIECTASIA-LIKE_DISORDER | 1 | ATAXIA_TELANGIECTASIA-LIKE_DISORDER |
| Alport_syndrome_x-linked | 1 | Alport_syndrome_x-linked |
| TUMOR_PREDISPOSITION_SYNDROME | 1 | TUMOR_PREDISPOSITION_SYNDROME |
| JUVENILE_POLYPOSIS_SYNDROME,_INFANTILE_FORM | 1 | JUVENILE_POLYPOSIS_SYNDROME,_INFANTILE_FORM |
| BRCA1_related_CANCER | 1 | BRCA1_related_CANCER |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_J | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_J |
| GASTRIC_CANCER,_FAMILIAL_DIFFUSE,_WITH_OR_WITHOUT_CLEFT_LIP_AND/OR_PALATE | 1 | GASTRIC_CANCER,_FAMILIAL_DIFFUSE,_WITH_OR_WITHOUT_CLEFT_LIP_AND/OR_PALATE |
| LEUKEMIA,_ACUTE_MYELOID | 1 | LEUKEMIA,_ACUTE_MYELOID |
| CHEK2_related_CANCER | 1 | CHEK2_related_CANCER |
| COLORECTAL_CANCER,_HEREDITARY_NONPOLYPOSIS,_TYPE_8 | 1 | COLORECTAL_CANCER,_HEREDITARY_NONPOLYPOSIS,_TYPE_8 |
| XERODERMA_PIGMENTOSUM,_GROUP_D | 1 | XERODERMA_PIGMENTOSUM,_GROUP_D |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_Q | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_Q |
| EXT1-related_multiple_exostoses | 1 | EXT1-related_multiple_exostoses |
| EXOSTOSES,_MULTIPLE,_TYPE_2 | 1 | EXOSTOSES,_MULTIPLE,_TYPE_2 |
| EMBERGER_SYNDROME | 1 | EMBERGER_SYNDROME |
| RENAL_CELL_CARCINOMA,_PAPILLARY,_1 | 1 | RENAL_CELL_CARCINOMA,_PAPILLARY,_1 |
| ADENOMAS,_MULTIPLE_COLORECTAL | 1 | ADENOMAS,_MULTIPLE_COLORECTAL |
| NEUROFIBROMATOSIS,_TYPE_1 | 1 | NEUROFIBROMATOSIS,_TYPE_1 |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_N | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_N |
| PALB2_related_CANCER | 1 | PALB2_related_CANCER |
| BASAL_CELL_NEVUS_SYNDROME | 1 | BASAL_CELL_NEVUS_SYNDROME |
| COWDEN_SYNDROME_1 | 1 | COWDEN_SYNDROME_1 |
| RETINOBLASTOMA | 1 | RETINOBLASTOMA |
| TYLOSIS_WITH_ESOPHAGEAL_CANCER | 1 | TYLOSIS_WITH_ESOPHAGEAL_CANCER |
| PLATELET_DISORDER,_FAMILIAL,_WITH_ASSOCIATED_MYELOID_MALIGNANCY | 1 | PLATELET_DISORDER,_FAMILIAL,_WITH_ASSOCIATED_MYELOID_MALIGNANCY |
| PARAGANGLIOMAS_2 | 1 | PARAGANGLIOMAS_2 |
| PARAGANGLIOMAS_3 | 1 | PARAGANGLIOMAS_3 |
| LI-FRAUMENI_SYNDROME | 1 | LI-FRAUMENI_SYNDROME |
| NEUROBLASTOMA_WITH_HIRSCHSPRUNG_DISEASE | 1 | NEUROBLASTOMA_WITH_HIRSCHSPRUNG_DISEASE |
| HYPERPARATHYROIDISM-JAW_TUMOR_SYNDROME | 1 | HYPERPARATHYROIDISM-JAW_TUMOR_SYNDROME |
| MEDULLOBLASTOMA,_ASSOCIATED_WITH_GORLIN_SYNDROME | 1 | MEDULLOBLASTOMA,_ASSOCIATED_WITH_GORLIN_SYNDROME |
| FAMILIAL_GIST | 1 | FAMILIAL_GIST |
| HEREDITARY_MIXED_POLYPOSIS | 1 | HEREDITARY_MIXED_POLYPOSIS |
| ADENOMATOUS_POLYPOSIS,_CRC,__BREAST_CANCER_AND_OTHER_TUMOURS | 1 | ADENOMATOUS_POLYPOSIS,_CRC,__BREAST_CANCER_AND_OTHER_TUMOURS |
| PARAGANGLIOMAS | 1 | PARAGANGLIOMAS |
| FAMILIAL_WILMS_TUMOUR | 1 | FAMILIAL_WILMS_TUMOUR |
| Autoimmune_lymphoproliferative_syndrome | 1 | Autoimmune_lymphoproliferative_syndrome |
| Multiple_endocrine_neoplasia,_type_IV | 1 | Multiple_endocrine_neoplasia,_type_IV |
| ELANE-Related_Neutropenia | 1 | ELANE-Related_Neutropenia |
| Lymphoproliferative_syndrome,_X-linked | 1 | Lymphoproliferative_syndrome,_X-linked |
| Melanoma,_cutaneous_malignant | 1 | Melanoma,_cutaneous_malignant |
| Meningioma,_familial | 1 | Meningioma,_familial |
| Cowden_syndrome | 1 | Cowden_syndrome |
| Paget_disease_of_bone | 1 | Paget_disease_of_bone |
| Dyskeratosis_congenita,_autosomal_dominant | 1 | Dyskeratosis_congenita,_autosomal_dominant |
| Lymphoproliferative_syndrome | 1 | Lymphoproliferative_syndrome |
| RTEL1-related_dyskeratosis_congenita | 1 | RTEL1-related_dyskeratosis_congenita |
| Myeloproliferative/lymphoproliferative_neoplasms,_familial_(multiple_types),_susceptibility_to | 1 | Myeloproliferative/lymphoproliferative_neoplasms,_familial_(multiple_types),_susceptibility_to |
| Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma | 1 | Diaphyseal_medullary_stenosis_with_malignant_fibrous_histiocytoma |
| Neuroblastoma,_susceptibility_to | 1 | Neuroblastoma,_susceptibility_to |
| Nonsmall_cell_lung_cancer,_susceptibility_to | 1 | Nonsmall_cell_lung_cancer,_susceptibility_to |
| Pituitary_adenoma_predisposition | 1 | Pituitary_adenoma_predisposition |
| RAD51C_related_cancer | 1 | RAD51C_related_cancer |
| PEUTZ-JEGHERS_SYNDROME | 1 | PEUTZ-JEGHERS_SYNDROME |
| RHABDOID_TUMOR_PREDISPOSITION_SYNDROME | 1 | RHABDOID_TUMOR_PREDISPOSITION_SYNDROME |
| Xeroderma_pigmentosum,_variant_type | 1 | Xeroderma_pigmentosum,_variant_type |
| Myofibromatosis,_infantile | 1 | Myofibromatosis,_infantile |
| Hyper-IgE_recurrent_infection_syndrome,_autosomal_recessive | 1 | Hyper-IgE_recurrent_infection_syndrome,_autosomal_recessive |
| PARN-related_dyskeratosis_congenita | 1 | PARN-related_dyskeratosis_congenita |
| Gastrointestinal_stromal_tumor/GIST-plus_syndrome,_somatic_or_familial | 1 | Gastrointestinal_stromal_tumor/GIST-plus_syndrome,_somatic_or_familial |
| Multiple_self-healing_squamous_epithelioma,_susceptibility_to | 1 | Multiple_self-healing_squamous_epithelioma,_susceptibility_to |
| RAD51D_related_cancer | 1 | RAD51D_related_cancer |
| DICER1_Tumor_Predisposition | 1 | DICER1_Tumor_Predisposition |
| ATM-related_cancer | 1 | ATM-related_cancer |
| PTPN13_related_predisposition_to_bone_marrow_failure | 1 | PTPN13_related_predisposition_to_bone_marrow_failure |
| MBD4_multi-tumour_predisposition_syndrome | 1 | MBD4_multi-tumour_predisposition_syndrome |
| GIP-dependent_primary_bilateral_macronodular_adrenal_hyperplasia_with_Cushing's_syndrome | 1 | GIP-dependent_primary_bilateral_macronodular_adrenal_hyperplasia_with_Cushing's_syndrome |
| Predisposition_to_ependymoma | 1 | Predisposition_to_ependymoma |
| Bazex-Dupre-Christol_basal_cell_carcinoma_susceptibility_syndrome | 1 | Bazex-Dupre-Christol_basal_cell_carcinoma_susceptibility_syndrome |
| CHEK2-related_cancer_predisposition | 1 | CHEK2-related_cancer_predisposition |
| NPAT-related_cancer | 1 | NPAT-related_cancer |
| OCULOAURICULAR_SYNDROME | 1 | OCULOAURICULAR_SYNDROME |
| FANCONI_ANEMIA_COMPLEMENTATION_GROUP_P | 1 | FANCONI_ANEMIA_COMPLEMENTATION_GROUP_P |
| ARGININEMIA | 1 | ARGININEMIA |
| SECKEL_SYNDROME_TYPE_1 | 1 | SECKEL_SYNDROME_TYPE_1 |
| ALG9-CDG | 1 | ALG9-CDG |
| COLOBOMA,_OCULAR,_WITH_OR_WITHOUT_HEARING_IMPAIRMENT,_CLEFT_LIP/PALATE,_AND/OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | COLOBOMA,_OCULAR,_WITH_OR_WITHOUT_HEARING_IMPAIRMENT,_CLEFT_LIP/PALATE,_AND/OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| BARDET-BIEDL_SYNDROME_TYPE_9 | 1 | BARDET-BIEDL_SYNDROME_TYPE_9 |
| BARDET-BIEDL_SYNDROME_TYPE_11 | 1 | BARDET-BIEDL_SYNDROME_TYPE_11 |
| RENAL-COLOBOMA_SYNDROME | 1 | RENAL-COLOBOMA_SYNDROME |
| FGFR3-related_lacrimo-auriculo-dento-digital_syndrome | 1 | FGFR3-related_lacrimo-auriculo-dento-digital_syndrome |
| DYSCHROMATOSIS_SYMMETRICA_HEREDITARIA_1 | 1 | DYSCHROMATOSIS_SYMMETRICA_HEREDITARIA_1 |
| HYPOGONADOTROPIC_HYPOGONADISM_WITH_OR_WITHOUT_ANOSMIA | 1 | HYPOGONADOTROPIC_HYPOGONADISM_WITH_OR_WITHOUT_ANOSMIA |
| SPONDYLOCARPOTARSAL_SYNOSTOSIS_SYNDROME | 1 | SPONDYLOCARPOTARSAL_SYNOSTOSIS_SYNDROME |
| NONPECIFIC_SEVERE_ID | 1 | NONPECIFIC_SEVERE_ID |
| AGPS-related_rhizomelic_chondrodysplasia_punctata | 1 | AGPS-related_rhizomelic_chondrodysplasia_punctata |
| ORAL-FACIAL-DIGITAL_SYNDROME_TYPE_1 | 1 | ORAL-FACIAL-DIGITAL_SYNDROME_TYPE_1 |
| LISSENCEPHALY_TYPE_1 | 1 | LISSENCEPHALY_TYPE_1 |
| COL1A1-RELATED_OSTEOGENESIS_IMPERFECTA | 1 | COL1A1-RELATED_OSTEOGENESIS_IMPERFECTA |
| CAMTA1-related_cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities | 1 | CAMTA1-related_cerebellar_dysfunction_with_variable_cognitive_and_behavioral_abnormalities |
| SPONDYLOEPIPHYSEAL_DYSPLASIA_WITH_CONGENITAL_JOINT_DISLOCATIONS | 1 | SPONDYLOEPIPHYSEAL_DYSPLASIA_WITH_CONGENITAL_JOINT_DISLOCATIONS |
| LEBER_CONGENITAL_AMAUROSIS_6 | 1 | LEBER_CONGENITAL_AMAUROSIS_6 |
| POPLITEAL_PTERYGIUM_SYNDROME,_LETHAL_TYPE | 1 | POPLITEAL_PTERYGIUM_SYNDROME,_LETHAL_TYPE |
| ULNAR-MAMMARY_SYNDROME | 1 | ULNAR-MAMMARY_SYNDROME |
| CEREBELLAR_DYSPLASIA_WITH_CYSTS_WITH_OR_WITHOUT_RETINAL_DYSTROPHY | 1 | CEREBELLAR_DYSPLASIA_WITH_CYSTS_WITH_OR_WITHOUT_RETINAL_DYSTROPHY |
| COG7-CDG | 1 | COG7-CDG |
| RETT_SYNDROME_(RTT) | 1 | RETT_SYNDROME_(RTT) |
| HEREDITARY_HYPERFERRITINEMIA-CATARACT_SYNDROME | 1 | HEREDITARY_HYPERFERRITINEMIA-CATARACT_SYNDROME |
| NOONAN_SYNDROME-LIKE_DISORDER_WITH_OR_WITHOUT_JUVENILE_MEYLOMONOCYTIC_LEUKEMIA | 1 | NOONAN_SYNDROME-LIKE_DISORDER_WITH_OR_WITHOUT_JUVENILE_MEYLOMONOCYTIC_LEUKEMIA |
| KNIEST_DYSPLASIA | 1 | KNIEST_DYSPLASIA |
| HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_2 | 1 | HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_2 |
| MICROCEPHALY,_GROWTH_FAILURE_AND_RETINOPATHY | 1 | MICROCEPHALY,_GROWTH_FAILURE_AND_RETINOPATHY |
| ARYLSULFATASE_A_DEFICIENCY | 1 | ARYLSULFATASE_A_DEFICIENCY |
| CLN3-related_neuronal_ceroid_lipofuscinosis | 1 | CLN3-related_neuronal_ceroid_lipofuscinosis |
| LRP5-related_osteopetrosis | 1 | LRP5-related_osteopetrosis |
| SPEECH-LANGUAGE_DISORDER_1 | 1 | SPEECH-LANGUAGE_DISORDER_1 |
| ADAMS-OLIVER_SYNDROME_2 | 1 | ADAMS-OLIVER_SYNDROME_2 |
| PARKINSONISM-DYSTONIA,_INFANTILE | 1 | PARKINSONISM-DYSTONIA,_INFANTILE |
| CHAMP1-related_neurodevelopmental_disorder | 1 | CHAMP1-related_neurodevelopmental_disorder |
| CONGENITAL_PRIMARY_APHAKIA | 1 | CONGENITAL_PRIMARY_APHAKIA |
| CLN8-related_neuronal_ceroid_lipofuscinosis | 1 | CLN8-related_neuronal_ceroid_lipofuscinosis |
| MCKUSICK-KAUFMAN_SYNDROME | 1 | MCKUSICK-KAUFMAN_SYNDROME |
| NEPHROTIC_SYNDROME_TYPE_1 | 1 | NEPHROTIC_SYNDROME_TYPE_1 |
| SPONDYLOEPIPHYSEAL_DYSPLASIA_TYPE_KIMBERLEY | 1 | SPONDYLOEPIPHYSEAL_DYSPLASIA_TYPE_KIMBERLEY |
| EXTREME_MYOPIA;MYOPIA_23,_AUTOSOMAL_RECESSIVE | 1 | EXTREME_MYOPIA;MYOPIA_23,_AUTOSOMAL_RECESSIVE |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_12 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_12 |
| HEMOLYTIC_ANEMIA_DUE_TO_UMPH1_DEFICIENCY | 1 | HEMOLYTIC_ANEMIA_DUE_TO_UMPH1_DEFICIENCY |
| SLC4A11-related_corneal_endothelial_dystrophy_with_or_without_deafness | 1 | SLC4A11-related_corneal_endothelial_dystrophy_with_or_without_deafness |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ARX-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ARX-RELATED |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_1 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_1 |
| MICROPHTHALMIA_WITH_CATARACTS_AND_IRIS_ABNORMALITIES | 1 | MICROPHTHALMIA_WITH_CATARACTS_AND_IRIS_ABNORMALITIES |
| MYASTHENIC_SYNDROME,_CONGENITAL,_WITH_TUBULAR_AGGREGATES_2 | 1 | MYASTHENIC_SYNDROME,_CONGENITAL,_WITH_TUBULAR_AGGREGATES_2 |
| NEMALINE_MYOPATHY_6 | 1 | NEMALINE_MYOPATHY_6 |
| PIERRE_ROBIN_SEQUENCE | 1 | PIERRE_ROBIN_SEQUENCE |
| OSTEOPATHIA_STRIATA_WITH_CRANIAL_SCLEROSIS | 1 | OSTEOPATHIA_STRIATA_WITH_CRANIAL_SCLEROSIS |
| NEPHRONOPHTHISIS_9 | 1 | NEPHRONOPHTHISIS_9 |
| SPONDYLOEPIPHYSEAL_DYSPLASIA_TARDA | 1 | SPONDYLOEPIPHYSEAL_DYSPLASIA_TARDA |
| PURE_HAIR_AND_NAIL_ECTODERMAL_DYSPLASIA | 1 | PURE_HAIR_AND_NAIL_ECTODERMAL_DYSPLASIA |
| MEIER-GORLIN_SYNDROME_5 | 1 | MEIER-GORLIN_SYNDROME_5 |
| IFT140-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly | 1 | IFT140-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly |
| HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| Schaaf-Yang_syndrome | 1 | Schaaf-Yang_syndrome |
| TUBULAR-AGGREGATE_MYOPATHY | 1 | TUBULAR-AGGREGATE_MYOPATHY |
| Glucose_Transporter_Type_1_Deficiency_Syndrome | 1 | Glucose_Transporter_Type_1_Deficiency_Syndrome |
| ABLEPHARON_MACROSTOMIA_SYNDROME | 1 | ABLEPHARON_MACROSTOMIA_SYNDROME |
| ECTODERMAL_DYSPLASIA/SHORT_STATURE_SYNDROME | 1 | ECTODERMAL_DYSPLASIA/SHORT_STATURE_SYNDROME |
| 3-HYDROXYACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY | 1 | 3-HYDROXYACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY |
| ACROMESOMELIC_CHONDRODYSPLASIA_GREBE_TYPE | 1 | ACROMESOMELIC_CHONDRODYSPLASIA_GREBE_TYPE |
| ORNITHINE_TRANSCARBAMYLASE_DEFICIENCY | 1 | ORNITHINE_TRANSCARBAMYLASE_DEFICIENCY |
| INHERITED_SKIN_FRAGILITY | 1 | INHERITED_SKIN_FRAGILITY |
| CORNEAL_DYSTROPHY_FUCHS_ENDOTHELIAL_TYPE_6 | 1 | CORNEAL_DYSTROPHY_FUCHS_ENDOTHELIAL_TYPE_6 |
| CATARACT,_COPPOCK-LIKE | 1 | CATARACT,_COPPOCK-LIKE |
| GROWTH_HORMONE_INSENSITIVITY_WITH_IMMUNODEFICIENCY | 1 | GROWTH_HORMONE_INSENSITIVITY_WITH_IMMUNODEFICIENCY |
| TOWNES-BROCKS_SYNDROME | 1 | TOWNES-BROCKS_SYNDROME |
| RETINITIS_PIGMENTOSA_57 | 1 | RETINITIS_PIGMENTOSA_57 |
| RENAL-HEPATIC-PANCREATIC_DYSPLASIA_2 | 1 | RENAL-HEPATIC-PANCREATIC_DYSPLASIA_2 |
| HEMORRHAGIC_DESTRUCTION_OF_THE_BRAIN,_SUBEPENDYMAL_CALCIFICATION,_AND_CATARACTS | 1 | HEMORRHAGIC_DESTRUCTION_OF_THE_BRAIN,_SUBEPENDYMAL_CALCIFICATION,_AND_CATARACTS |
| CONGENITAL_CONTRACTURES_OF_THE_LIMBS_AND_FACE,_HYPOTONIA,_AND_DEVELOPMENTAL_DELAY | 1 | CONGENITAL_CONTRACTURES_OF_THE_LIMBS_AND_FACE,_HYPOTONIA,_AND_DEVELOPMENTAL_DELAY |
| ALOPECIA_AND_T-CELL_IMMUNODEFICIENCY | 1 | ALOPECIA_AND_T-CELL_IMMUNODEFICIENCY |
| BARDET-BIEDL_SYNDROME_TYPE_10 | 1 | BARDET-BIEDL_SYNDROME_TYPE_10 |
| INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY_AND_LACTIC_ACIDOSIS | 1 | INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY_AND_LACTIC_ACIDOSIS |
| GROWTH_RETARDATION_DEVELOPMENTAL_DELAY_COARSE_FACIES_AND_EARLY_DEATH | 1 | GROWTH_RETARDATION_DEVELOPMENTAL_DELAY_COARSE_FACIES_AND_EARLY_DEATH |
| DESBUQUOIS_DYSPLASIA_2 | 1 | DESBUQUOIS_DYSPLASIA_2 |
| MULTIPLE_PTERYGIUM_SYNDROME_ESCOBAR_VARIANT | 1 | MULTIPLE_PTERYGIUM_SYNDROME_ESCOBAR_VARIANT |
| TEMTAMY_PREAXIAL_BRACHYDACTYLY_SYNDROME | 1 | TEMTAMY_PREAXIAL_BRACHYDACTYLY_SYNDROME |
| GOLDBERG-SHPRINTZEN_MEGACOLON_SYNDROME | 1 | GOLDBERG-SHPRINTZEN_MEGACOLON_SYNDROME |
| IFT172-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly | 1 | IFT172-related_short-rib_thoracic_dysplasia_with_or_without_polydactyly |
| INPP5E-related_intellectual_development_disorder,_truncal_obesity,_retinal_dystrophy,_and_micropenis | 1 | INPP5E-related_intellectual_development_disorder,_truncal_obesity,_retinal_dystrophy,_and_micropenis |
| SINOATRIAL_NODE_DYSFUNCTION_AND_DEAFNESS | 1 | SINOATRIAL_NODE_DYSFUNCTION_AND_DEAFNESS |
| ATRIOVENTRICULAR_SEPTAL_DEFECT_5 | 1 | ATRIOVENTRICULAR_SEPTAL_DEFECT_5 |
| HYPERIMMUNOGLOBULIN_E_RECURRENT_INFECTION_SYNDROME_AUTOSOMAL_RECESSIVE | 1 | HYPERIMMUNOGLOBULIN_E_RECURRENT_INFECTION_SYNDROME_AUTOSOMAL_RECESSIVE |
| HEREDITARY_FOLATE_MALABSORPTION | 1 | HEREDITARY_FOLATE_MALABSORPTION |
| EXFOLIATIVE_ICHTHYOSIS,_AUTOSOMAL_RECESSIVE,_ICHTHYOSIS_BULLOSA_OF_SIEMENS-LIKE | 1 | EXFOLIATIVE_ICHTHYOSIS,_AUTOSOMAL_RECESSIVE,_ICHTHYOSIS_BULLOSA_OF_SIEMENS-LIKE |
| ANEMIA,_SIDEROBLASTIC,_PYRIDOXINE-REFRACTORY,_AUTOSOMAL_RECESSIVE | 1 | ANEMIA,_SIDEROBLASTIC,_PYRIDOXINE-REFRACTORY,_AUTOSOMAL_RECESSIVE |
| AUTOSOMAL_RECESSIVE_OTOSPONDYLOMEGAEPIPHYSEAL_DYSPLASIA | 1 | AUTOSOMAL_RECESSIVE_OTOSPONDYLOMEGAEPIPHYSEAL_DYSPLASIA |
| BRCA1-related_Fanconi_anaemia | 1 | BRCA1-related_Fanconi_anaemia |
| FRAGILE_X-E_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME | 1 | FRAGILE_X-E_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME |
| COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_5 | 1 | COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_5 |
| BOSLEY-SALIH-ALORAINY_SYNDROME | 1 | BOSLEY-SALIH-ALORAINY_SYNDROME |
| JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_2 | 1 | JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_2 |
| GPSM2-related_sensorineural_hearing_loss_with_corpus_callosum_hypoplasia,_gray_matter_heterotopia_and_arachnoid_cysts | 1 | GPSM2-related_sensorineural_hearing_loss_with_corpus_callosum_hypoplasia,_gray_matter_heterotopia_and_arachnoid_cysts |
| PXDN-related_anterior_segment_dysgenesis_with_sclerocornea | 1 | PXDN-related_anterior_segment_dysgenesis_with_sclerocornea |
| PRIMARY_ALDOSTERONISM,_SEIZURES,_AND_NEUROLOGIC_ABNORMALITIES | 1 | PRIMARY_ALDOSTERONISM,_SEIZURES,_AND_NEUROLOGIC_ABNORMALITIES |
| NAKAJO_SYNDROME | 1 | NAKAJO_SYNDROME |
| HYPOTONIA,_INFANTILE,_WITH_PSYCHOMOTOR_RETARDATION_AND_CHARACTERISTIC_FACIES | 1 | HYPOTONIA,_INFANTILE,_WITH_PSYCHOMOTOR_RETARDATION_AND_CHARACTERISTIC_FACIES |
| OCCIPITAL_CORTICAL_MALFORMATIONS | 1 | OCCIPITAL_CORTICAL_MALFORMATIONS |
| METHIONINE_ADENOSYLTRANSFERASE_DEFICIENCY | 1 | METHIONINE_ADENOSYLTRANSFERASE_DEFICIENCY |
| CONGENITAL_INABILITY_TO_EXPERIENCE_PAIN | 1 | CONGENITAL_INABILITY_TO_EXPERIENCE_PAIN |
| COL9A1-related_Stickler_syndrome | 1 | COL9A1-related_Stickler_syndrome |
| ATRIAL_SEPTAL_DEFECT_WITH_ATRIOVENTRICULAR_CONDUCTION_DEFECTS | 1 | ATRIAL_SEPTAL_DEFECT_WITH_ATRIOVENTRICULAR_CONDUCTION_DEFECTS |
| PITT-HOPKINS_SYNDROME | 1 | PITT-HOPKINS_SYNDROME |
| COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_1 | 1 | COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_1 |
| POLYMICROGYRIA_WITH_OPTIC_NERVE_HYPOPLASIA | 1 | POLYMICROGYRIA_WITH_OPTIC_NERVE_HYPOPLASIA |
| CHROMOSOME_11P15.5-RELATED_RUSSELL-SILVER_SYNDROME | 1 | CHROMOSOME_11P15.5-RELATED_RUSSELL-SILVER_SYNDROME |
| BARDET-BIEDL_SYNDROME_TYPE_4 | 1 | BARDET-BIEDL_SYNDROME_TYPE_4 |
| AMELOGENESIS_IMPERFECTA | 1 | AMELOGENESIS_IMPERFECTA |
| MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_II | 1 | MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_II |
| MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_1 | 1 | MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_1 |
| BRANCHIOOTORENAL_SYNDROME_TYPE_1 | 1 | BRANCHIOOTORENAL_SYNDROME_TYPE_1 |
| N-ACETYLGLUTAMATE_SYNTHASE_DEFICIENCY | 1 | N-ACETYLGLUTAMATE_SYNTHASE_DEFICIENCY |
| 22Q11.2_DELETION_SYNDROME | 1 | 22Q11.2_DELETION_SYNDROME |
| HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA_SYNDROME | 1 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA_SYNDROME |
| GLYCOGEN_STORAGE_DISEASE_TYPE_VI | 1 | GLYCOGEN_STORAGE_DISEASE_TYPE_VI |
| LETHAL_NEONATAL_RIGIDITY_AND_SEIZURE_SYNDROME | 1 | LETHAL_NEONATAL_RIGIDITY_AND_SEIZURE_SYNDROME |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1N | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1N |
| SPASTIC_PARAPLEGIA_9,_AUTOSOMAL_DOMINANT | 1 | SPASTIC_PARAPLEGIA_9,_AUTOSOMAL_DOMINANT |
| CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIB | 1 | CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIB |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_41 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_41 |
| GLDC-RELATED_GLYCINE_ENCEPHALOPATHY | 1 | GLDC-RELATED_GLYCINE_ENCEPHALOPATHY |
| Intellectual_disability_with_autism_spectrum_disorder | 1 | Intellectual_disability_with_autism_spectrum_disorder |
| DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_1 | 1 | DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_1 |
| ACHONDROGENESIS_TYPE_2 | 1 | ACHONDROGENESIS_TYPE_2 |
| RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AD | 1 | RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AD |
| CORTICAL_DYSPLASIA-FOCAL_EPILEPSY_SYNDROME | 1 | CORTICAL_DYSPLASIA-FOCAL_EPILEPSY_SYNDROME |
| MUENKE_SYNDROME | 1 | MUENKE_SYNDROME |
| SHORT_SYNDROME | 1 | SHORT_SYNDROME |
| COHEN_SYNDROME | 1 | COHEN_SYNDROME |
| SERKAL_SYNDROME | 1 | SERKAL_SYNDROME |
| HYPERINSULINISM-HYPERAMMONEMIA_SYNDROME | 1 | HYPERINSULINISM-HYPERAMMONEMIA_SYNDROME |
| RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AR | 1 | RENAL_TUBULAR_ACIDOSIS,_DISTAL,_AR |
| LONG_CHAIN_3-HYDROXYACYL-COA_DEHYDROGENASE_DEFICIENCY | 1 | LONG_CHAIN_3-HYDROXYACYL-COA_DEHYDROGENASE_DEFICIENCY |
| BROWN-VIALETTO-VAN_LAERE_SYNDROME | 1 | BROWN-VIALETTO-VAN_LAERE_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TURNER_TYPE | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TURNER_TYPE |
| SPINAL_MUSCULAR_ATROPHY,_LOWER_EXTREMITY-PREDOMINANT,_AD | 1 | SPINAL_MUSCULAR_ATROPHY,_LOWER_EXTREMITY-PREDOMINANT,_AD |
| MYOPATHY,_EARLY-ONSET,_AREFLEXIA,_RESPIRATORY_DISTRESS,_AND_DYSPHAGIA | 1 | MYOPATHY,_EARLY-ONSET,_AREFLEXIA,_RESPIRATORY_DISTRESS,_AND_DYSPHAGIA |
| POLYMICROGYRIA | 1 | POLYMICROGYRIA |
| TRICHOTHIODYSTROPHY_NON-PHOTOSENSITIVE_TYPE_1 | 1 | TRICHOTHIODYSTROPHY_NON-PHOTOSENSITIVE_TYPE_1 |
| HYDROCEPHALUS_DUE_TO_STENOSIS_OF_THE_AQUEDUCT_OF_SYLVIUS | 1 | HYDROCEPHALUS_DUE_TO_STENOSIS_OF_THE_AQUEDUCT_OF_SYLVIUS |
| DENYS-DRASH_SYNDROME | 1 | DENYS-DRASH_SYNDROME |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY_TYPE_1 | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY_TYPE_1 |
| MEGALOCORNEA,_X-LINKED | 1 | MEGALOCORNEA,_X-LINKED |
| CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT,_CAKUT1 | 1 | CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT,_CAKUT1 |
| CONGENITAL_AND_JUVENILE_CATARACT | 1 | CONGENITAL_AND_JUVENILE_CATARACT |
| ALG8-CDG | 1 | ALG8-CDG |
| 3MC_SYNDROME_1 | 1 | 3MC_SYNDROME_1 |
| ROBINOW_SYNDROME,_AUTOSOMAL_RECESSIVE_1 | 1 | ROBINOW_SYNDROME,_AUTOSOMAL_RECESSIVE_1 |
| SPINOCEREBELLAR_ATAXIA_TYPE_13 | 1 | SPINOCEREBELLAR_ATAXIA_TYPE_13 |
| NORRIE_DISEASE | 1 | NORRIE_DISEASE |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_32 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_32 |
| MICROPHTHALMIA_SYNDROMIC_TYPE_2 | 1 | MICROPHTHALMIA_SYNDROMIC_TYPE_2 |
| CORNELIA_DE_LANGE-LIKE_SYNDROME_HDAC8_XLR | 1 | CORNELIA_DE_LANGE-LIKE_SYNDROME_HDAC8_XLR |
| COENZYME_Q10_DEFICIENCY,_PRIMARY,_2 | 1 | COENZYME_Q10_DEFICIENCY,_PRIMARY,_2 |
| ALG1-CDG | 1 | ALG1-CDG |
| PONTOCEREBELLAR_HYPOPLASIA_TYPE_6 | 1 | PONTOCEREBELLAR_HYPOPLASIA_TYPE_6 |
| SUBCUTANEOUS_LIPODYSTROPHY,_DEAFNESS,_MANDIBULAR_HYPOPLASIA_AND_MALE_HYPOGONADISM_ | 1 | SUBCUTANEOUS_LIPODYSTROPHY,_DEAFNESS,_MANDIBULAR_HYPOPLASIA_AND_MALE_HYPOGONADISM_ |
| KARS1-related_leukoencephalopathy_with_or_without_deafness | 1 | KARS1-related_leukoencephalopathy_with_or_without_deafness |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2C | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2C |
| GLASS_SYNDROME | 1 | GLASS_SYNDROME |
| HYPOKALEMIC_PERIODIC_PARALYSIS | 1 | HYPOKALEMIC_PERIODIC_PARALYSIS |
| CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_1 | 1 | CEREBRAL_CAVERNOUS_MALFORMATIONS_TYPE_1 |
| ALG11-CDG | 1 | ALG11-CDG |
| SEPTOOPTIC_DYSPLASIA | 1 | SEPTOOPTIC_DYSPLASIA |
| SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_1 | 1 | SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_1 |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A3_(MDDGA3) | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A3_(MDDGA3) |
| DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_2 | 1 | DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_2 |
| CLEIDOCRANIAL_DYSPLASIA | 1 | CLEIDOCRANIAL_DYSPLASIA |
| CRYGC-related_congenital_cataract | 1 | CRYGC-related_congenital_cataract |
| MARTINEZ-FRIAS_SYNDROME | 1 | MARTINEZ-FRIAS_SYNDROME |
| LEIGH_SYNDROME,_FRENCH-CANADIAN_TYPE | 1 | LEIGH_SYNDROME,_FRENCH-CANADIAN_TYPE |
| INFANTILE_STRIATONIGRAL_DEGENERATION | 1 | INFANTILE_STRIATONIGRAL_DEGENERATION |
| FLOATING-HARBOR_SYNDROME | 1 | FLOATING-HARBOR_SYNDROME |
| NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION | 1 | NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION |
| NEPHRONOPHTHISIS_TYPE_4 | 1 | NEPHRONOPHTHISIS_TYPE_4 |
| AGNATHIA-OTOCEPHALY_COMPLEX_monoallelic | 1 | AGNATHIA-OTOCEPHALY_COMPLEX_monoallelic |
| SCN1A-RELATED_SEIZURE_DISORDERS | 1 | SCN1A-RELATED_SEIZURE_DISORDERS |
| MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_6 | 1 | MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_6 |
| SPASTIC_PARAPLEGIA_AUTOSOMAL_RECESSIVE_TYPE_15 | 1 | SPASTIC_PARAPLEGIA_AUTOSOMAL_RECESSIVE_TYPE_15 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_24 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_24 |
| CRANIOECTODERMAL_DYSPLASIA_2 | 1 | CRANIOECTODERMAL_DYSPLASIA_2 |
| SCAPER-related_neurodevelopmental_disorder_and_retinitis_pigmentosa | 1 | SCAPER-related_neurodevelopmental_disorder_and_retinitis_pigmentosa |
| AICARDI-GOUTIERES_SYNDROME_4 | 1 | AICARDI-GOUTIERES_SYNDROME_4 |
| CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_3 | 1 | CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_3 |
| CONGENITAL_HEART_DEFECTS_and_XX_sex_reversal | 1 | CONGENITAL_HEART_DEFECTS_and_XX_sex_reversal |
| TEMTAMY_SYNDROME;_COLOBOMA,_HYPOPLASTIC_CORPUS_CALLOSUM_AND_INTELLECTUAL_DISABILITY | 1 | TEMTAMY_SYNDROME;_COLOBOMA,_HYPOPLASTIC_CORPUS_CALLOSUM_AND_INTELLECTUAL_DISABILITY |
| RHABDOID_PREDISPOSITION_SYNDROME_1 | 1 | RHABDOID_PREDISPOSITION_SYNDROME_1 |
| PYRUVATE_DEHYDROGENASE_E2_DEFICIENCY | 1 | PYRUVATE_DEHYDROGENASE_E2_DEFICIENCY |
| FRANK-TER_HAAR_SYNDROME | 1 | FRANK-TER_HAAR_SYNDROME |
| BOSCH-BOONSTRA_OPTIC_ATROPHY_SYNDROME | 1 | BOSCH-BOONSTRA_OPTIC_ATROPHY_SYNDROME |
| SAY-BARBER-BIESECKER-YOUNG-SIMPSON_SYNDROME | 1 | SAY-BARBER-BIESECKER-YOUNG-SIMPSON_SYNDROME |
| GREIG_CEPHALOPOLYSYNDACTYLY_SYNDROME | 1 | GREIG_CEPHALOPOLYSYNDACTYLY_SYNDROME |
| NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IIB | 1 | NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IIB |
| LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_3 | 1 | LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_3 |
| PITUITARY_DWARFISM_II | 1 | PITUITARY_DWARFISM_II |
| COENZYME_Q10_DEFICIENCY,_PRIMARY,_7 | 1 | COENZYME_Q10_DEFICIENCY,_PRIMARY,_7 |
| TOOTH_AGENESIS,_SELECTIVE,_3 | 1 | TOOTH_AGENESIS,_SELECTIVE,_3 |
| EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_6,_X-LINKED | 1 | EMERY-DREIFUSS_MUSCULAR_DYSTROPHY_6,_X-LINKED |
| DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_12 | 1 | DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_12 |
| NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1C | 1 | NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1C |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_13 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_13 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_59 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_59 |
| HYPOPHOSPHATASIA | 1 | HYPOPHOSPHATASIA |
| GLI2-RELATED_HOLOPROSENCEPHALY | 1 | GLI2-RELATED_HOLOPROSENCEPHALY |
| METHYLMALONIC_ACIDURIA_TYPE_CBLA | 1 | METHYLMALONIC_ACIDURIA_TYPE_CBLA |
| AUTOSOMAL_DOMINANT_LARSEN_SYNDROME | 1 | AUTOSOMAL_DOMINANT_LARSEN_SYNDROME |
| STRA6-related_syndromic_microphthalmia | 1 | STRA6-related_syndromic_microphthalmia |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ZNF711-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_ZNF711-RELATED |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_1 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_1 |
| FKRP-related_congenital_alpha-dystroglycanopathy_with_brain_and_eye_anomalies | 1 | FKRP-related_congenital_alpha-dystroglycanopathy_with_brain_and_eye_anomalies |
| MICROCEPHALY_CAPILLARY_MALFORMATION_(MIC-CAP)_SYNDROME | 1 | MICROCEPHALY_CAPILLARY_MALFORMATION_(MIC-CAP)_SYNDROME |
| SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL_DYSPLASIA | 1 | SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL_DYSPLASIA |
| AUTOSOMAL-_RECESSIVE_INTELLECTUAL_DISABILITY_MRT5 | 1 | AUTOSOMAL-_RECESSIVE_INTELLECTUAL_DISABILITY_MRT5 |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_9 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_9 |
| AUTOIMMUNE_DISEASE,_SYNDROMIC_MULTISYSTEM | 1 | AUTOIMMUNE_DISEASE,_SYNDROMIC_MULTISYSTEM |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1O | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1O |
| AROMATIC_L-AMINO-ACID_DECARBOXYLASE_DEFICIENCY | 1 | AROMATIC_L-AMINO-ACID_DECARBOXYLASE_DEFICIENCY |
| MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_1 | 1 | MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_1 |
| FAMILIAL_FOCAL_EPILEPSY_WITH_VARIABLE_FOCI | 1 | FAMILIAL_FOCAL_EPILEPSY_WITH_VARIABLE_FOCI |
| CLOVES:_CONGENITAL_LIPOMATOUS_OVERGROWTH,_VASCULAR_MALFORMATIONS,_AND_EPIDERMAL_NEVI | 1 | CLOVES:_CONGENITAL_LIPOMATOUS_OVERGROWTH,_VASCULAR_MALFORMATIONS,_AND_EPIDERMAL_NEVI |
| INPP5E-related_Joubert_syndrome | 1 | INPP5E-related_Joubert_syndrome |
| POSTAXIAL_ACROFACIAL_DYSOSTOSIS | 1 | POSTAXIAL_ACROFACIAL_DYSOSTOSIS |
| CHARCOT-MARIE-TOOTH_DISEASE_X-LINKED_RECESSIVE_TYPE_5 | 1 | CHARCOT-MARIE-TOOTH_DISEASE_X-LINKED_RECESSIVE_TYPE_5 |
| HYPOPHOSPHATEMIC_RICKETS,_AR | 1 | HYPOPHOSPHATEMIC_RICKETS,_AR |
| MICROPHTHALMIA_ISOLATED_TYPE_3 | 1 | MICROPHTHALMIA_ISOLATED_TYPE_3 |
| AMISH_LETHAL_MICROCEPHALY | 1 | AMISH_LETHAL_MICROCEPHALY |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_11 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_11 |
| ADAMS-OLIVER_SYNDROME_1 | 1 | ADAMS-OLIVER_SYNDROME_1 |
| BARDET-BIEDL_SYNDROME_TYPE_5 | 1 | BARDET-BIEDL_SYNDROME_TYPE_5 |
| HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE_2 | 1 | HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE_2 |
| 2-AMINOADIPIC_AND_2-OXOADIPIC_ACIDURIA | 1 | 2-AMINOADIPIC_AND_2-OXOADIPIC_ACIDURIA |
| MICROPHTHALMIA,_ISOLATED,_WITH_COLOBOMA_7 | 1 | MICROPHTHALMIA,_ISOLATED,_WITH_COLOBOMA_7 |
| EPILEPSY_WITH_MYOCLONIC-ATONIC_SEIZURES | 1 | EPILEPSY_WITH_MYOCLONIC-ATONIC_SEIZURES |
| LEUKODYSTROPHY_HYPOMYELINATING_TYPE_4 | 1 | LEUKODYSTROPHY_HYPOMYELINATING_TYPE_4 |
| GUANIDINOACETATE_METHYLTRANSFERASE_DEFICIENCY | 1 | GUANIDINOACETATE_METHYLTRANSFERASE_DEFICIENCY |
| X-LINKED_CONGENITAL_IDIOPATHIC_INTESTINAL_PSEUDOOBSTRUCTION | 1 | X-LINKED_CONGENITAL_IDIOPATHIC_INTESTINAL_PSEUDOOBSTRUCTION |
| CFC1-RELATED_CONOTRUNCAL_HEART_MALFORMATIONS | 1 | CFC1-RELATED_CONOTRUNCAL_HEART_MALFORMATIONS |
| LYSYL_HYDROXYLASE_3_DEFICIENCY | 1 | LYSYL_HYDROXYLASE_3_DEFICIENCY |
| ARID1B-related_Coffin-Siris_Syndrome | 1 | ARID1B-related_Coffin-Siris_Syndrome |
| AUTOINFLAMMATION,_ANTIBODY_DEFICIENCY,_AND_IMMUNE_DYSREGULATION,_PLCG2-ASSOCIATED | 1 | AUTOINFLAMMATION,_ANTIBODY_DEFICIENCY,_AND_IMMUNE_DYSREGULATION,_PLCG2-ASSOCIATED |
| NEURAL_TUBE_DEFECT | 1 | NEURAL_TUBE_DEFECT |
| SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_12 | 1 | SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_12 |
| GLYCOGEN_STORAGE_DISEASE_TYPE_III | 1 | GLYCOGEN_STORAGE_DISEASE_TYPE_III |
| TRICHO-RHINO-PHALANGEAL_SYNDROME_TYPE_1 | 1 | TRICHO-RHINO-PHALANGEAL_SYNDROME_TYPE_1 |
| NEMALINE_MYOPATHY_8,_AUTOSOMAL_RECESSIVE | 1 | NEMALINE_MYOPATHY_8,_AUTOSOMAL_RECESSIVE |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2A | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_2A |
| SOX11-related_neurodevelopmental_disorder | 1 | SOX11-related_neurodevelopmental_disorder |
| PARKINSON_DISEASE_9 | 1 | PARKINSON_DISEASE_9 |
| LISSENCEPHALY_2 | 1 | LISSENCEPHALY_2 |
| GALACTOSEMIA | 1 | GALACTOSEMIA |
| CRIGLER-NAJJAR_SYNDROME,_TYPE_I | 1 | CRIGLER-NAJJAR_SYNDROME,_TYPE_I |
| MOWAT-WILSON_SYNDROME | 1 | MOWAT-WILSON_SYNDROME |
| TTC8-related_retinitis_pigmentosa | 1 | TTC8-related_retinitis_pigmentosa |
| CRANIOECTODERMAL_DYSPLASIA_TYPE_3 | 1 | CRANIOECTODERMAL_DYSPLASIA_TYPE_3 |
| PROLIFERATIVE_VASCULOPATHY_AND_HYDRAENCEPHALY-HYDROCEPHALY_SYNDROME | 1 | PROLIFERATIVE_VASCULOPATHY_AND_HYDRAENCEPHALY-HYDROCEPHALY_SYNDROME |
| GAPO_SYNDROME | 1 | GAPO_SYNDROME |
| DENT_DISEASE_TYPE_2 | 1 | DENT_DISEASE_TYPE_2 |
| NEPHROTIC_SYNDROME,_TYPE_2 | 1 | NEPHROTIC_SYNDROME,_TYPE_2 |
| Kleefstra_syndrome | 1 | Kleefstra_syndrome |
| MEIER-GORLIN_SYNDROME_4 | 1 | MEIER-GORLIN_SYNDROME_4 |
| Autosomal_recessive_titinopathy_with_arthrogryposis_and/or_myopathy_ | 1 | Autosomal_recessive_titinopathy_with_arthrogryposis_and/or_myopathy_ |
| SYNPOLYDACTYLY,_3/3-PRIME/4,_ASSOCIATED_WITH_METACARPAL_AND_METATARSAL_SYNOSTOSES | 1 | SYNPOLYDACTYLY,_3/3-PRIME/4,_ASSOCIATED_WITH_METACARPAL_AND_METATARSAL_SYNOSTOSES |
| ATHELIA | 1 | ATHELIA |
| EPILEPTIC_ENCEPHALOPATHY_WITH_SEIZURE_ONSET_IN_THE_FIRST_DAYS_OF_LIFE | 1 | EPILEPTIC_ENCEPHALOPATHY_WITH_SEIZURE_ONSET_IN_THE_FIRST_DAYS_OF_LIFE |
| LYSOSOMAL_BETA-MANNOSIDOSIS | 1 | LYSOSOMAL_BETA-MANNOSIDOSIS |
| LENZ-MAJEWSKI_HYPEROSTOTIC_DWARFISM | 1 | LENZ-MAJEWSKI_HYPEROSTOTIC_DWARFISM |
| ANONYCHIA_CONGENITA | 1 | ANONYCHIA_CONGENITA |
| CARNITINE-ACYLCARNITINE_TRANSLOCASE_DEFICIENCY | 1 | CARNITINE-ACYLCARNITINE_TRANSLOCASE_DEFICIENCY |
| SPLIT-HAND/FOOT_MALFORMATION_TYPE_6 | 1 | SPLIT-HAND/FOOT_MALFORMATION_TYPE_6 |
| AICARDI-GOUTIERES_SYNDROME_1,_DOMINANT_AND_RECESSIVE | 1 | AICARDI-GOUTIERES_SYNDROME_1,_DOMINANT_AND_RECESSIVE |
| EPILEPTIC_ENCEPHALOPATHY_Loss-of-function | 1 | EPILEPTIC_ENCEPHALOPATHY_Loss-of-function |
| COHESINOPATHY | 1 | COHESINOPATHY |
| INFANTILE_ENCEPHALOPATHY_WITH_EPILEPSY_AND_DYSMORPHIC_CORPUS_CALLOSUM | 1 | INFANTILE_ENCEPHALOPATHY_WITH_EPILEPSY_AND_DYSMORPHIC_CORPUS_CALLOSUM |
| HAWKINSINURIA | 1 | HAWKINSINURIA |
| GNPAT-related_rhizomelic_chondrodysplasia_punctata | 1 | GNPAT-related_rhizomelic_chondrodysplasia_punctata |
| DNM1-associated_microcephaly,_developmental_and_epileptic_encephalopathy | 1 | DNM1-associated_microcephaly,_developmental_and_epileptic_encephalopathy |
| COG5-CDG | 1 | COG5-CDG |
| GM2-GANGLIOSIDOSIS_TYPE_2 | 1 | GM2-GANGLIOSIDOSIS_TYPE_2 |
| SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_2 | 1 | SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_2 |
| HYPERPHENYLALANINEMIA,_BH4-DEFICIENT,_D | 1 | HYPERPHENYLALANINEMIA,_BH4-DEFICIENT,_D |
| DEAFNESS,_DYSTONIA,_AND_CENTRAL_HYPOMYELINATION_WITH_DISORGANIZATION_OF_THE_GOLGI_APPARATUS | 1 | DEAFNESS,_DYSTONIA,_AND_CENTRAL_HYPOMYELINATION_WITH_DISORGANIZATION_OF_THE_GOLGI_APPARATUS |
| ATRIAL_SEPTAL_DEFECT_TYPE_3 | 1 | ATRIAL_SEPTAL_DEFECT_TYPE_3 |
| CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_2 | 1 | CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_2 |
| KBG_SYNDROME | 1 | KBG_SYNDROME |
| POTOCKI-SHAFFER_SYNDROME | 1 | POTOCKI-SHAFFER_SYNDROME |
| NEURAL_TUBE_DEFECTS | 1 | NEURAL_TUBE_DEFECTS |
| JOUBERT_SYNDROME_TYPE_10 | 1 | JOUBERT_SYNDROME_TYPE_10 |
| DIABETES_MELLITUS,_PERMANENT_NEONATAL,_WITH_CEREBELLAR_AGENESIS | 1 | DIABETES_MELLITUS,_PERMANENT_NEONATAL,_WITH_CEREBELLAR_AGENESIS |
| SEVERE_EARLY-ONSET_EPILEPSY | 1 | SEVERE_EARLY-ONSET_EPILEPSY |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER-JOINT_HYPERMOBILITY-SKIN_LAXITY_WITH_OR_WITHOUT_METABOLIC_ABNORMALITIES | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER-JOINT_HYPERMOBILITY-SKIN_LAXITY_WITH_OR_WITHOUT_METABOLIC_ABNORMALITIES |
| WNT7A-_associated_skeletal_malformations_syndrome | 1 | WNT7A-_associated_skeletal_malformations_syndrome |
| HYPERKALEMIC_PERIODIC_PARALYSIS_TYPE_1 | 1 | HYPERKALEMIC_PERIODIC_PARALYSIS_TYPE_1 |
| BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS_SYNDROME | 1 | BLEPHAROPHIMOSIS,_PTOSIS,_AND_EPICANTHUS_INVERSUS_SYNDROME |
| NEMALINE_MYOPATHY_7 | 1 | NEMALINE_MYOPATHY_7 |
| MICROCEPHALY,_POSTNATAL_PROGRESSIVE,_WITH_SEIZURES_AND_BRAIN_ATROPHY | 1 | MICROCEPHALY,_POSTNATAL_PROGRESSIVE,_WITH_SEIZURES_AND_BRAIN_ATROPHY |
| THYROID_HORMONOGENESIS_DEFECT_I | 1 | THYROID_HORMONOGENESIS_DEFECT_I |
| MOYAMOYA_DISEASE_5 | 1 | MOYAMOYA_DISEASE_5 |
| SPLIT-HAND/FOOT_MALFORMATION_TYPE_3 | 1 | SPLIT-HAND/FOOT_MALFORMATION_TYPE_3 |
| ASPH-related_dysmorphism,_lens_dislocation,_anterior_segment_abnormalities,_and_filtering_blebs | 1 | ASPH-related_dysmorphism,_lens_dislocation,_anterior_segment_abnormalities,_and_filtering_blebs |
| CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_5 | 1 | CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_5 |
| SULFATIDOSIS,_JUVENILE,_AUSTIN_TYPE | 1 | SULFATIDOSIS,_JUVENILE,_AUSTIN_TYPE |
| CIB2-related_Usher_syndrome | 1 | CIB2-related_Usher_syndrome |
| MACROCEPHALY,_MACROSOMIA,_FACIAL_DYSMORPHISM_SYNDROME | 1 | MACROCEPHALY,_MACROSOMIA,_FACIAL_DYSMORPHISM_SYNDROME |
| OROFACIODIGITAL_SYNDROME_XIV | 1 | OROFACIODIGITAL_SYNDROME_XIV |
| JOUBERT_SYNDROME_15 | 1 | JOUBERT_SYNDROME_15 |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_24 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_24 |
| CAMURATI-ENGELMANN_DISEASE | 1 | CAMURATI-ENGELMANN_DISEASE |
| PTEN_Hamartoma_Tumor_Syndrome | 1 | PTEN_Hamartoma_Tumor_Syndrome |
| OSTEOGLOPHONIC_DYSPLASIA | 1 | OSTEOGLOPHONIC_DYSPLASIA |
| ATRIAL_SEPTAL_DEFECT_TYPE_6 | 1 | ATRIAL_SEPTAL_DEFECT_TYPE_6 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_6 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_6 |
| MEIER-GORLIN_SYNDROME_1 | 1 | MEIER-GORLIN_SYNDROME_1 |
| BARDET-BIEDL_SYNDROME_TYPE_3 | 1 | BARDET-BIEDL_SYNDROME_TYPE_3 |
| MUCOPOLYSACCHARIDOSIS_TYPE_1S | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_1S |
| Tatton-Brown_Rahman_syndrome_(OVERGROWTH_SYNDROME_WITH_INTELLECTUAL_DISABILITY) | 1 | Tatton-Brown_Rahman_syndrome_(OVERGROWTH_SYNDROME_WITH_INTELLECTUAL_DISABILITY) |
| UV-SENSITIVE_SYNDROME | 1 | UV-SENSITIVE_SYNDROME |
| CHOANAL_ATRESIA_AND_LYMPHEDEMA | 1 | CHOANAL_ATRESIA_AND_LYMPHEDEMA |
| FAMILIAL_HORIZONTAL_GAZE_PALSY_WITH_PROGRESSIVE_SCOLIOSIS | 1 | FAMILIAL_HORIZONTAL_GAZE_PALSY_WITH_PROGRESSIVE_SCOLIOSIS |
| BARDET-BIEDL_SYNDROME_TYPE_1 | 1 | BARDET-BIEDL_SYNDROME_TYPE_1 |
| FRONTONASAL_DYSPLASIA_TYPE_3 | 1 | FRONTONASAL_DYSPLASIA_TYPE_3 |
| BMP4-related_microphthalmia_with_brain_and_digit_anomalies | 1 | BMP4-related_microphthalmia_with_brain_and_digit_anomalies |
| TETRA-AMELIA_SYNDROME | 1 | TETRA-AMELIA_SYNDROME |
| MERRF | 1 | MERRF |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1G | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION_TYPE_1G |
| SUCCINYL-COA-3-KETOACID-COA_TRANSFERASE_DEFICIENCY | 1 | SUCCINYL-COA-3-KETOACID-COA_TRANSFERASE_DEFICIENCY |
| MFSD8-RELATED_NEURONAL_CEROID-LIPOFUSCINOSIS | 1 | MFSD8-RELATED_NEURONAL_CEROID-LIPOFUSCINOSIS |
| COENZYME_Q10_DEFICIENCY,_PRIMARY,_3 | 1 | COENZYME_Q10_DEFICIENCY,_PRIMARY,_3 |
| MUCOPOLYSACCHARIDOSIS_TYPE_7 | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_7 |
| 2-METHYL-3-HYDROXYBUTYRYL-COA_DEHYDROGENASE_DEFICIENCY | 1 | 2-METHYL-3-HYDROXYBUTYRYL-COA_DEHYDROGENASE_DEFICIENCY |
| NOONAN_SYNDROME_8 | 1 | NOONAN_SYNDROME_8 |
| DIABETES_MELLITUS,_6Q24-RELATED_TRANSIENT_NEONATAL | 1 | DIABETES_MELLITUS,_6Q24-RELATED_TRANSIENT_NEONATAL |
| LEUKOENCEPHALOPATHY_WITH_BRAINSTEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LACTATE_ELEVATION | 1 | LEUKOENCEPHALOPATHY_WITH_BRAINSTEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LACTATE_ELEVATION |
| MALONYL-COA_DECARBOXYLASE_DEFICIENCY | 1 | MALONYL-COA_DECARBOXYLASE_DEFICIENCY |
| ALOPECIA_NEUROLOGIC_DEFECTS_AND_ENDOCRINOPATHY_SYNDROME | 1 | ALOPECIA_NEUROLOGIC_DEFECTS_AND_ENDOCRINOPATHY_SYNDROME |
| HGSNAT-related_mucopolysaccharidosis_type_IIIC | 1 | HGSNAT-related_mucopolysaccharidosis_type_IIIC |
| GLUTARICACIDEMIA_TYPE_1 | 1 | GLUTARICACIDEMIA_TYPE_1 |
| ZUNICH_NEUROECTODERMAL_SYNDROME | 1 | ZUNICH_NEUROECTODERMAL_SYNDROME |
| ZFPM2-associated_malformation_syndrome | 1 | ZFPM2-associated_malformation_syndrome |
| PRIMARY_CILIARY_DYSPLASIA | 1 | PRIMARY_CILIARY_DYSPLASIA |
| CANTU_SYNDROME_HYPERTRICHOTIC_OSTEOCHONDRODYSPLASIA | 1 | CANTU_SYNDROME_HYPERTRICHOTIC_OSTEOCHONDRODYSPLASIA |
| KABUKI_SYNDROME_2 | 1 | KABUKI_SYNDROME_2 |
| LANGER_MESOMELIC_DYSPLASIA | 1 | LANGER_MESOMELIC_DYSPLASIA |
| BENIGN_FAMILIAL_INFANTILE_EPILEPSY_AND_INFANTILE_CONVULSIONS_WITH_CHOREOATHETOSIS_SYNDROME | 1 | BENIGN_FAMILIAL_INFANTILE_EPILEPSY_AND_INFANTILE_CONVULSIONS_WITH_CHOREOATHETOSIS_SYNDROME |
| GDF6_Oculo-Skeletal_Syndrome | 1 | GDF6_Oculo-Skeletal_Syndrome |
| COACH_SYNDROME | 1 | COACH_SYNDROME |
| VACTERL_ASSOCIATION,_X-LINKED,_WITH_OR_WITHOUT_HYDROCEPHALUS | 1 | VACTERL_ASSOCIATION,_X-LINKED,_WITH_OR_WITHOUT_HYDROCEPHALUS |
| EPILEPSY,_PROGRESSIVE_MYOCLONIC_7 | 1 | EPILEPSY,_PROGRESSIVE_MYOCLONIC_7 |
| CHRNB2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT | 1 | CHRNB2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT |
| METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLD | 1 | METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLD |
| GALK1-related_galactokinase_deficiency_with_cataracts | 1 | GALK1-related_galactokinase_deficiency_with_cataracts |
| NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1A | 1 | NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1A |
| VENTRICULOMEGALY_WITH_CYSTIC_KIDNEY_DISEASE | 1 | VENTRICULOMEGALY_WITH_CYSTIC_KIDNEY_DISEASE |
| PYRUVATE_CARBOXYLASE_DEFICIENCY | 1 | PYRUVATE_CARBOXYLASE_DEFICIENCY |
| JOUBERT_SYNDROME_14 | 1 | JOUBERT_SYNDROME_14 |
| CCDC78-related_congenital_myopathy | 1 | CCDC78-related_congenital_myopathy |
| ATRIAL_SEPTAL_DEFECT_TYPE_2 | 1 | ATRIAL_SEPTAL_DEFECT_TYPE_2 |
| SEVERE_COBBLESTONE_LISSENCEPHALY | 1 | SEVERE_COBBLESTONE_LISSENCEPHALY |
| RING_DERMOID_OF_CORNEA | 1 | RING_DERMOID_OF_CORNEA |
| CHILDHOOD_ABSENCE_EPILEPSY_TYPE_5 | 1 | CHILDHOOD_ABSENCE_EPILEPSY_TYPE_5 |
| CATARACT_POSTERIOR_POLAR_TYPE_2 | 1 | CATARACT_POSTERIOR_POLAR_TYPE_2 |
| ALVEOLAR_CAPILLARY_DYSPLASIA_WITH_MISALIGNMENT_OF_PULMONARY_VEINS | 1 | ALVEOLAR_CAPILLARY_DYSPLASIA_WITH_MISALIGNMENT_OF_PULMONARY_VEINS |
| AUTOSOMAL-DOMINANT_MICROCEPHALY_ASSOCIATED_WITH_LYMPHEDEMA_AND/OR_CHORIORETINOPATHY | 1 | AUTOSOMAL-DOMINANT_MICROCEPHALY_ASSOCIATED_WITH_LYMPHEDEMA_AND/OR_CHORIORETINOPATHY |
| METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLJ_TYPE | 1 | METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLJ_TYPE |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_OPHN1-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_OPHN1-RELATED |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_91 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_91 |
| MEDIUM_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY | 1 | MEDIUM_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY |
| SMAD3-RELATED_LOEYS-DIETZ_SYNDROME | 1 | SMAD3-RELATED_LOEYS-DIETZ_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_CASK-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_CASK-RELATED |
| GLUTARIC_ACIDURIA_TYPE_2C | 1 | GLUTARIC_ACIDURIA_TYPE_2C |
| CHAR_SYNDROME | 1 | CHAR_SYNDROME |
| OLMSTED_SYNDROME | 1 | OLMSTED_SYNDROME |
| PERIVENTRICULAR_HETEROTOPIA_WITH_MICROCEPHALY | 1 | PERIVENTRICULAR_HETEROTOPIA_WITH_MICROCEPHALY |
| HYDROLETHALUS_SYNDROME_TYPE_1 | 1 | HYDROLETHALUS_SYNDROME_TYPE_1 |
| NESTOR-GUILLERMO_PROGERIA_SYNDROME | 1 | NESTOR-GUILLERMO_PROGERIA_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_ZDHHC9-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_ZDHHC9-RELATED |
| FOXC1-related_Axenfeld-Rieger_syndrome | 1 | FOXC1-related_Axenfeld-Rieger_syndrome |
| GENERALIZED_EPILEPSY_AND_PAROXYSMAL_DYSKINESIA | 1 | GENERALIZED_EPILEPSY_AND_PAROXYSMAL_DYSKINESIA |
| CRANIOECTODERMAL_DYSPLASIA | 1 | CRANIOECTODERMAL_DYSPLASIA |
| TETRALOGY_OF_FALLOT | 1 | TETRALOGY_OF_FALLOT |
| HYPEREKPLEXIA | 1 | HYPEREKPLEXIA |
| CRANIOECTODERMAL_DYSPLASIA_4 | 1 | CRANIOECTODERMAL_DYSPLASIA_4 |
| CEP152-related_Developmental_Disorder | 1 | CEP152-related_Developmental_Disorder |
| DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_39_WITH_DENTINOGENESIS_IMPERFECTA_1 | 1 | DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_39_WITH_DENTINOGENESIS_IMPERFECTA_1 |
| CLCN7-RELATED_OSTEOPETROSIS | 1 | CLCN7-RELATED_OSTEOPETROSIS |
| MODERATE_SENSORINEURAL_HEARING_LOSS | 1 | MODERATE_SENSORINEURAL_HEARING_LOSS |
| CLUBBING_WITH_SKELETAL_DYSPLASIA_INC_ACROOSTEOLYSIS | 1 | CLUBBING_WITH_SKELETAL_DYSPLASIA_INC_ACROOSTEOLYSIS |
| MULTICENTRIC_CARPOTARSAL_OSTEOLYSIS_SYNDROME | 1 | MULTICENTRIC_CARPOTARSAL_OSTEOLYSIS_SYNDROME |
| COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_7 | 1 | COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_7 |
| POLYCYSTIC_KIDNEY_DISEASE,_AUTOSOMAL_RECESSIVE | 1 | POLYCYSTIC_KIDNEY_DISEASE,_AUTOSOMAL_RECESSIVE |
| SUBCORTICAL_BAND_HETEROTOPIA_X-LINKED | 1 | SUBCORTICAL_BAND_HETEROTOPIA_X-LINKED |
| KENNY-CAFFEY_SYNDROME | 1 | KENNY-CAFFEY_SYNDROME |
| AUTOSOMAL-RECESSIVE_CONE-ROD_DYSTROPHY | 1 | AUTOSOMAL-RECESSIVE_CONE-ROD_DYSTROPHY |
| 3-METHYLCROTONYL-COA_CARBOXYLASE_2_DEFICIENCY | 1 | 3-METHYLCROTONYL-COA_CARBOXYLASE_2_DEFICIENCY |
| CRX-RELATED_LEBER_CONGENITAL_AMAUROSIS_LEBER_CONGENITAL_AMAUROSIS_7 | 1 | CRX-RELATED_LEBER_CONGENITAL_AMAUROSIS_LEBER_CONGENITAL_AMAUROSIS_7 |
| CATARACT,_AUTOSOMAL_RECESSIVE_CONGENITAL_1 | 1 | CATARACT,_AUTOSOMAL_RECESSIVE_CONGENITAL_1 |
| LYMPHEDEMA,_HEREDITARY,_IC | 1 | LYMPHEDEMA,_HEREDITARY,_IC |
| SEVERE_CONGENITAL_NEUTROPENIA | 1 | SEVERE_CONGENITAL_NEUTROPENIA |
| OROTIC_ACIDURIA_TYPE_1 | 1 | OROTIC_ACIDURIA_TYPE_1 |
| MICROPHTHALMIA_ISOLATED_TYPE_2 | 1 | MICROPHTHALMIA_ISOLATED_TYPE_2 |
| PROXIMAL_RENAL_TUBULAR_ACIDOSIS_WITH_OCULAR_ABNORMALITIES | 1 | PROXIMAL_RENAL_TUBULAR_ACIDOSIS_WITH_OCULAR_ABNORMALITIES |
| BAMFORTH-LAZARUS_SYNDROME | 1 | BAMFORTH-LAZARUS_SYNDROME |
| HERMANSKY-PUDLAK_SYNDROME_9 | 1 | HERMANSKY-PUDLAK_SYNDROME_9 |
| MYOPATHY_MYOFIBRILLAR_TYPE_4 | 1 | MYOPATHY_MYOFIBRILLAR_TYPE_4 |
| ARL6-related_retinal_dystrophy | 1 | ARL6-related_retinal_dystrophy |
| SPTAN1-related_neurodevelopmental_disorder_with_epilepsy_and_spastic_paraplegia | 1 | SPTAN1-related_neurodevelopmental_disorder_with_epilepsy_and_spastic_paraplegia |
| ABCB11-RELATED_INTRAHEPATIC_CHOLESTASIS | 1 | ABCB11-RELATED_INTRAHEPATIC_CHOLESTASIS |
| ACUTE_HEPATIC_PORPHYRIA | 1 | ACUTE_HEPATIC_PORPHYRIA |
| ATAXIA,_POSTERIOR_COLUMN,_WITH_RETINITIS_PIGMENTOSA | 1 | ATAXIA,_POSTERIOR_COLUMN,_WITH_RETINITIS_PIGMENTOSA |
| JOUBERT_SYNDROME_2 | 1 | JOUBERT_SYNDROME_2 |
| HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_6 | 1 | HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_6 |
| CATARACT_AUTOSOMAL_DOMINANT_BFSP2-RELATED | 1 | CATARACT_AUTOSOMAL_DOMINANT_BFSP2-RELATED |
| MICROCEPHALY_AND_CHORIORETINOPATHY_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | MICROCEPHALY_AND_CHORIORETINOPATHY_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| ATYPICAL_NOONAN_SYNDROME | 1 | ATYPICAL_NOONAN_SYNDROME |
| ECTODERMAL_DYSPLASIA-SYNDACTYLY_SYNDROME_1 | 1 | ECTODERMAL_DYSPLASIA-SYNDACTYLY_SYNDROME_1 |
| NYSTAGMUS_1,_CONGENITAL,_X-LINKED | 1 | NYSTAGMUS_1,_CONGENITAL,_X-LINKED |
| CONGENITAL_SYSTEMIC_GLUTAMINE_DEFICIENCY | 1 | CONGENITAL_SYSTEMIC_GLUTAMINE_DEFICIENCY |
| MEIER-GORLIN_SYNDROME_2 | 1 | MEIER-GORLIN_SYNDROME_2 |
| 3MC_SYNDROME_2 | 1 | 3MC_SYNDROME_2 |
| Periventricular_nodular_heterotopia_with_ID,_cleft_palate_and_2.3_toe_syndactyly | 1 | Periventricular_nodular_heterotopia_with_ID,_cleft_palate_and_2.3_toe_syndactyly |
| EPILEPSY,_FOCAL,_WITH_SPEECH_DISORDER_AND_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | EPILEPSY,_FOCAL,_WITH_SPEECH_DISORDER_AND_WITH_OR_WITHOUT_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| FRAGILE_X_TREMOR/ATAXIA_SYNDROME | 1 | FRAGILE_X_TREMOR/ATAXIA_SYNDROME |
| MYOCLONIC_EPILEPSY,_INFANTILE,_FAMILIAL | 1 | MYOCLONIC_EPILEPSY,_INFANTILE,_FAMILIAL |
| Macrocephaly_with_intellectual_disability | 1 | Macrocephaly_with_intellectual_disability |
| WDR45-RELATED_NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION | 1 | WDR45-RELATED_NEURODEGENERATION_WITH_BRAIN_IRON_ACCUMULATION |
| HEREDITARY_SPASTIC_PARAPARESIS | 1 | HEREDITARY_SPASTIC_PARAPARESIS |
| BRACHYDACTYLY,_TYPE_B1 | 1 | BRACHYDACTYLY,_TYPE_B1 |
| SIALIDOSIS | 1 | SIALIDOSIS |
| MICROCEPHALY,_PROGRESSIVE,_SEIZURES,_AND_CEREBRAL_AND_CEREBELLAR_ATROPHY | 1 | MICROCEPHALY,_PROGRESSIVE,_SEIZURES,_AND_CEREBRAL_AND_CEREBELLAR_ATROPHY |
| CEREBRO-COSTO-MANDIBULAR_SYNDROME | 1 | CEREBRO-COSTO-MANDIBULAR_SYNDROME |
| GALACTOSIALIDOSIS | 1 | GALACTOSIALIDOSIS |
| DIAPHANOSPONDYLODYSOSTOSIS | 1 | DIAPHANOSPONDYLODYSOSTOSIS |
| THIAMINE_METABOLISM_DYSFUNCTION_SYNDROME_2 | 1 | THIAMINE_METABOLISM_DYSFUNCTION_SYNDROME_2 |
| DIAPHRAGMATIC_HERNIA_3 | 1 | DIAPHRAGMATIC_HERNIA_3 |
| VESICOURETERAL_REFLUX_TYPE_3 | 1 | VESICOURETERAL_REFLUX_TYPE_3 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_6 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_6 |
| SENGERS_SYNDROME | 1 | SENGERS_SYNDROME |
| MYOPATHY,_MYOFIBRILLAR,_FATAL_INFANTILE_HYPERTONIC,_ALPHA-B_CRYSTALLIN-RELATED | 1 | MYOPATHY,_MYOFIBRILLAR,_FATAL_INFANTILE_HYPERTONIC,_ALPHA-B_CRYSTALLIN-RELATED |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_46 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_46 |
| PSEUDOHYPOPARATHYROIDISM_TYPE_1B | 1 | PSEUDOHYPOPARATHYROIDISM_TYPE_1B |
| MUCOPOLYSACCHARIDOSIS_TYPE_3D | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_3D |
| SHORT-RIB_POLYDACTYLY | 1 | SHORT-RIB_POLYDACTYLY |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_28 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_28 |
| PARTINGTON_SYNDROME | 1 | PARTINGTON_SYNDROME |
| CATARACT_17,_MULTIPLE_TYPES,_MONOALLELIC | 1 | CATARACT_17,_MULTIPLE_TYPES,_MONOALLELIC |
| X-LINKED_CREATINE_DEFICIENCY_SYNDROME | 1 | X-LINKED_CREATINE_DEFICIENCY_SYNDROME |
| FAMILIAL_PARTIAL_LIPODYSTROPHY_TYPE_2 | 1 | FAMILIAL_PARTIAL_LIPODYSTROPHY_TYPE_2 |
| SUCCINATE_SEMIALDEHYDE_DEHYDROGENASE_DEFICIENCY | 1 | SUCCINATE_SEMIALDEHYDE_DEHYDROGENASE_DEFICIENCY |
| PORENCEPHALY_1 | 1 | PORENCEPHALY_1 |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A1 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A1 |
| BRACHYDACTYLY,_TYPE_E2 | 1 | BRACHYDACTYLY,_TYPE_E2 |
| CONE-ROD_DYSTROPHY_16 | 1 | CONE-ROD_DYSTROPHY_16 |
| CONGENITAL_GENERALIZED_LIPODYSTROPHY_TYPE_3 | 1 | CONGENITAL_GENERALIZED_LIPODYSTROPHY_TYPE_3 |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_ABNORMAL_DENTITION | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_ABNORMAL_DENTITION |
| SECKEL_SYNDROME_6 | 1 | SECKEL_SYNDROME_6 |
| Proximal_spinal_muscular_atrophy_with_brain_anomalies | 1 | Proximal_spinal_muscular_atrophy_with_brain_anomalies |
| HYPOTRICHOSIS_SIMPLEX_OF_THE_SCALP_2 | 1 | HYPOTRICHOSIS_SIMPLEX_OF_THE_SCALP_2 |
| EHLERS-DANLOS_SYNDROME_PROGEROID_TYPE | 1 | EHLERS-DANLOS_SYNDROME_PROGEROID_TYPE |
| SYNDROMIC_MR_WITH_ATAXIA,_DYSARTHRIA_AND_EPILEPSY | 1 | SYNDROMIC_MR_WITH_ATAXIA,_DYSARTHRIA_AND_EPILEPSY |
| MEGALOBLASTIC_ANEMIA_DUE_TO_DIHYDROFOLATE_REDUCTASE_DEFICIENCY | 1 | MEGALOBLASTIC_ANEMIA_DUE_TO_DIHYDROFOLATE_REDUCTASE_DEFICIENCY |
| HARS1-related_Usher_syndrome | 1 | HARS1-related_Usher_syndrome |
| OSTEOPETROSIS_AUTOSOMAL_RECESSIVE_TYPE_3 | 1 | OSTEOPETROSIS_AUTOSOMAL_RECESSIVE_TYPE_3 |
| COCOON_SYNDROME | 1 | COCOON_SYNDROME |
| CATARACT_5,_MULTIPLE_TYPES | 1 | CATARACT_5,_MULTIPLE_TYPES |
| MIRROR_MOVEMENTS_2 | 1 | MIRROR_MOVEMENTS_2 |
| PFEIFFER_SYNDROME | 1 | PFEIFFER_SYNDROME |
| KRABBE_DISEASE | 1 | KRABBE_DISEASE |
| AICARDI-GOUTIERES_SYNDROME_2 | 1 | AICARDI-GOUTIERES_SYNDROME_2 |
| ADRENOLEUKODYSTROPHY_PSEUDONEONATAL | 1 | ADRENOLEUKODYSTROPHY_PSEUDONEONATAL |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_3 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_3 |
| FEINGOLD_SYNDROME | 1 | FEINGOLD_SYNDROME |
| DESMOSTEROLOSIS | 1 | DESMOSTEROLOSIS |
| SKELETAL_DEFECTS_GENITAL_HYPOPLASIA_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | SKELETAL_DEFECTS_GENITAL_HYPOPLASIA_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| ALEXANDER_DISEASE | 1 | ALEXANDER_DISEASE |
| HESX1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY | 1 | HESX1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_3 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_3 |
| ALAGILLE_SYNDROME | 1 | ALAGILLE_SYNDROME |
| SEX_REVERSAL_TYPE_3 | 1 | SEX_REVERSAL_TYPE_3 |
| JENSEN_SYNDROME | 1 | JENSEN_SYNDROME |
| VAN_DEN_ENDE-GUPTA_SYNDROME | 1 | VAN_DEN_ENDE-GUPTA_SYNDROME |
| WOODHOUSE-SAKATI_SYNDROME | 1 | WOODHOUSE-SAKATI_SYNDROME |
| HOMOCYSTINURIA-MEGALOBLASTIC_ANEMIA,_CBL_E_TYPE | 1 | HOMOCYSTINURIA-MEGALOBLASTIC_ANEMIA,_CBL_E_TYPE |
| BARDET-BIEDL_SYNDROME_TYPE_8 | 1 | BARDET-BIEDL_SYNDROME_TYPE_8 |
| LEUKODYSTROPHY_HYPOMYELINATING_TYPE_1 | 1 | LEUKODYSTROPHY_HYPOMYELINATING_TYPE_1 |
| 6-PYRUVOYLTETRAHYDROPTERIN_SYNTHASE_DEFICIENCY | 1 | 6-PYRUVOYLTETRAHYDROPTERIN_SYNTHASE_DEFICIENCY |
| SCHMID_TYPE_METAPHYSEAL_CHONDRODYSPLASIA | 1 | SCHMID_TYPE_METAPHYSEAL_CHONDRODYSPLASIA |
| CONGENITAL_CONTRACTURAL_ARACHNODACTYLY | 1 | CONGENITAL_CONTRACTURAL_ARACHNODACTYLY |
| NONSYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | NONSYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| CHONDRODYSPLASIA_WITH_JOINT_DISLOCATIONS,_GRAPP_TYPE | 1 | CHONDRODYSPLASIA_WITH_JOINT_DISLOCATIONS,_GRAPP_TYPE |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99 |
| TYROSINEMIA_TYPE_3 | 1 | TYROSINEMIA_TYPE_3 |
| PRIMARY_CILIARY_DYSKINEASIA | 1 | PRIMARY_CILIARY_DYSKINEASIA |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_48 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_48 |
| IMMUNODEFICIENCY-CENTROMERIC_INSTABILITY-FACIAL_ANOMALIES_SYNDROME_1 | 1 | IMMUNODEFICIENCY-CENTROMERIC_INSTABILITY-FACIAL_ANOMALIES_SYNDROME_1 |
| FRAGILE_X_SYNDROME | 1 | FRAGILE_X_SYNDROME |
| CORNELIA_DE_LANGE_SYNDROME_TYPE_3 | 1 | CORNELIA_DE_LANGE_SYNDROME_TYPE_3 |
| OPHTHALMOACROMELIC_SYNDROME | 1 | OPHTHALMOACROMELIC_SYNDROME |
| DNA2-related_microcephalic_primordial_dwarfism_with_or_without_poikiloderma_and_cataracts | 1 | DNA2-related_microcephalic_primordial_dwarfism_with_or_without_poikiloderma_and_cataracts |
| DONNAI-BARROW_SYNDROME | 1 | DONNAI-BARROW_SYNDROME |
| HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME | 1 | HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME |
| Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly | 1 | Short-rib_thoracic_dysplasia_3_with_or_without_polydactyly |
| MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_I | 1 | MICROCEPHALIC_OSTEODYSPLASTIC_PRIMORDIAL_DWARFISM,_TYPE_I |
| SHORT_CHAIN_ACYL-COA_DEHYDROGENASE_DEFICIENCY | 1 | SHORT_CHAIN_ACYL-COA_DEHYDROGENASE_DEFICIENCY |
| ADENYLOSUCCINASE_DEFICIENCY | 1 | ADENYLOSUCCINASE_DEFICIENCY |
| COG1-CDG | 1 | COG1-CDG |
| ICHTHYOSIS,_SPASTIC_QUADRIPLEGIA,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | ICHTHYOSIS,_SPASTIC_QUADRIPLEGIA,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| NDST1-related_intellectual_disability_with_or_without_seizures | 1 | NDST1-related_intellectual_disability_with_or_without_seizures |
| NONSYNDROMIC_AUTOSOMAL-RECESSIVE_INTELLECTUAL_DISABILITY | 1 | NONSYNDROMIC_AUTOSOMAL-RECESSIVE_INTELLECTUAL_DISABILITY |
| CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_6 | 1 | CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_6 |
| ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY,_hemizygous | 1 | ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY,_hemizygous |
| CEROID_LIPOFUSCINOSIS,_NEURONAL,_6 | 1 | CEROID_LIPOFUSCINOSIS,_NEURONAL,_6 |
| PHELAN-MCDERMID_SYNDROME | 1 | PHELAN-MCDERMID_SYNDROME |
| PYRUVATE_DEHYDROGENASE_E1-ALPHA_DEFICIENCY_IN_FEMALES | 1 | PYRUVATE_DEHYDROGENASE_E1-ALPHA_DEFICIENCY_IN_FEMALES |
| HYPOMAGNESEMIA_5,_RENAL,_WITH_OCULAR_INVOLVEMENT | 1 | HYPOMAGNESEMIA_5,_RENAL,_WITH_OCULAR_INVOLVEMENT |
| ALS2-RELATED_DISORDERS | 1 | ALS2-RELATED_DISORDERS |
| TRIPHALANGEAL_THUMB-POLYSYNDACTYLY_SYNDROME | 1 | TRIPHALANGEAL_THUMB-POLYSYNDACTYLY_SYNDROME |
| MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_2 | 1 | MULTIPLE_MITOCHONDRIAL_DYSFUNCTIONS_SYNDROME_2 |
| TCF12-related_neurodevelopmental_disorder_with_coronal_craniosynostosis | 1 | TCF12-related_neurodevelopmental_disorder_with_coronal_craniosynostosis |
| MITOCHONDRIAL_COMPLEX_III_DEFICIENCY | 1 | MITOCHONDRIAL_COMPLEX_III_DEFICIENCY |
| LEUKODYSTROPHY,_HYPOMYELINATING,_2 | 1 | LEUKODYSTROPHY,_HYPOMYELINATING,_2 |
| SLC12A5-related_epilepsy_of_infancy_with_migrating_focal_seizures | 1 | SLC12A5-related_epilepsy_of_infancy_with_migrating_focal_seizures |
| CURRARINO_SYNDROME | 1 | CURRARINO_SYNDROME |
| ADENOSINE_DEAMINASE_DEFICIENCY | 1 | ADENOSINE_DEAMINASE_DEFICIENCY |
| HYPERLYSINEMIA | 1 | HYPERLYSINEMIA |
| PANCREATIC_AGENESIS,_DIAPHRAGMATIC_HERNIA_AND_CONGENITAL_HEART_DEFECTS | 1 | PANCREATIC_AGENESIS,_DIAPHRAGMATIC_HERNIA_AND_CONGENITAL_HEART_DEFECTS |
| BRANCHIOOCULOFACIAL_SYNDROME | 1 | BRANCHIOOCULOFACIAL_SYNDROME |
| GHOSAL_HEMATODIAPHYSEAL_SYNDROME | 1 | GHOSAL_HEMATODIAPHYSEAL_SYNDROME |
| LHX4-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY | 1 | LHX4-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_18 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_18 |
| COL11A1-related_fibrochondrogenesis | 1 | COL11A1-related_fibrochondrogenesis |
| SYSTEMIC_PRIMARY_CARNITINE_DEFICIENCY | 1 | SYSTEMIC_PRIMARY_CARNITINE_DEFICIENCY |
| PARAMYOTONIA_CONGENITA_OF_VON_EULENBURG | 1 | PARAMYOTONIA_CONGENITA_OF_VON_EULENBURG |
| FAMILIAL_HYPERINSULINISM | 1 | FAMILIAL_HYPERINSULINISM |
| PHOSPHOSERINE_PHOSPHATASE_DEFICIENCY | 1 | PHOSPHOSERINE_PHOSPHATASE_DEFICIENCY |
| UBE2A-RELATED_X-LINKED_SYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | UBE2A-RELATED_X-LINKED_SYNDROMIC_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| NAIL_DISORDER_NON-SYNDROMIC_CONGENITAL_TYPE_10 | 1 | NAIL_DISORDER_NON-SYNDROMIC_CONGENITAL_TYPE_10 |
| PRIMARY_MICROCEPHALY_AND_DISTURBED_CENTROSOMAL_FUNCTION | 1 | PRIMARY_MICROCEPHALY_AND_DISTURBED_CENTROSOMAL_FUNCTION |
| DEAFNESS_WITH_LABYRINTHINE_APLASIA,_MICROTIA_AND_MICRODONTIA | 1 | DEAFNESS_WITH_LABYRINTHINE_APLASIA,_MICROTIA_AND_MICRODONTIA |
| WALKER_WARBURG_SYNDROME | 1 | WALKER_WARBURG_SYNDROME |
| STAR_SYNDROME | 1 | STAR_SYNDROME |
| DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_3 | 1 | DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_3 |
| 46XY_SEX_REVERSAL_6 | 1 | 46XY_SEX_REVERSAL_6 |
| HOLT-ORAM_SYNDROME | 1 | HOLT-ORAM_SYNDROME |
| ATELOSTEOGENESIS_TYPE_3 | 1 | ATELOSTEOGENESIS_TYPE_3 |
| STICKLER_SYNDROME,_TYPE_V | 1 | STICKLER_SYNDROME,_TYPE_V |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_12 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_12 |
| CATARACT,_NUCLEAR | 1 | CATARACT,_NUCLEAR |
| CHILDHOOD-ONSET_HYPOGAMMAGLOBULINEMIA | 1 | CHILDHOOD-ONSET_HYPOGAMMAGLOBULINEMIA |
| CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_2 | 1 | CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_2 |
| 3-METHYLGLUTACONIC_ACIDURIA_TYPE_1 | 1 | 3-METHYLGLUTACONIC_ACIDURIA_TYPE_1 |
| BH4-DEFICIENT_HYPERPHENYLALANINEMIA_C | 1 | BH4-DEFICIENT_HYPERPHENYLALANINEMIA_C |
| KABUKI_SYNDROME | 1 | KABUKI_SYNDROME |
| NEUROMYOTONIA_AND_AXONAL_NEUROPATHY,_AUTOSOMAL_RECESSIVE | 1 | NEUROMYOTONIA_AND_AXONAL_NEUROPATHY,_AUTOSOMAL_RECESSIVE |
| Cataract_2,_multiple_types | 1 | Cataract_2,_multiple_types |
| ALG6-CDG | 1 | ALG6-CDG |
| ARID1A-related_Coffin-Siris_Syndrome | 1 | ARID1A-related_Coffin-Siris_Syndrome |
| 46XY_SEX_REVERSAL_1 | 1 | 46XY_SEX_REVERSAL_1 |
| CATARACT_CONGENITAL_ZONULAR_WITH_SUTURAL_OPACITIES | 1 | CATARACT_CONGENITAL_ZONULAR_WITH_SUTURAL_OPACITIES |
| SMITH-MAGENIS_SYNDROME | 1 | SMITH-MAGENIS_SYNDROME |
| C_SYNDROME | 1 | C_SYNDROME |
| EARLY_INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND_MICROCEPHALY | 1 | EARLY_INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND_MICROCEPHALY |
| CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_1 | 1 | CORTICAL_DYSPLASIA,_COMPLEX,_WITH_OTHER_BRAIN_MALFORMATIONS_1 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_23 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_23 |
| PRIMARY_CILLARY_DYSKINEASIA | 1 | PRIMARY_CILLARY_DYSKINEASIA |
| KEPPEN-LUBINSKY_SYNDROME | 1 | KEPPEN-LUBINSKY_SYNDROME |
| AUTOSOMAL-RECESSIVE_MICROCEPHALY_WITH_CHORIORETINOPATHY. | 1 | AUTOSOMAL-RECESSIVE_MICROCEPHALY_WITH_CHORIORETINOPATHY. |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_MISSOURI_TYPE | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_MISSOURI_TYPE |
| RPS19-RELATED_DIAMOND-BLACKFAN_ANEMIA | 1 | RPS19-RELATED_DIAMOND-BLACKFAN_ANEMIA |
| GLYCOGEN_STORAGE_DISEASE_TYPE_II | 1 | GLYCOGEN_STORAGE_DISEASE_TYPE_II |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_4 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_4 |
| CHRNA2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT | 1 | CHRNA2-RELATED_NOCTURNAL_FRONTAL_LOBE_EPILEPSY,_AUTOSOMAL_DOMINANT |
| PRIMARY_FAILURE_OF_TOOTH_ERUPTION | 1 | PRIMARY_FAILURE_OF_TOOTH_ERUPTION |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME_1 | 1 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME_1 |
| SCALP-EAR-NIPPLE_SYNDROME | 1 | SCALP-EAR-NIPPLE_SYNDROME |
| RETINAL_NON-ATTACHMENT_CONGENITAL_NON-SYNDROMIC | 1 | RETINAL_NON-ATTACHMENT_CONGENITAL_NON-SYNDROMIC |
| MITOCHONDRIAL_PROGRESSIVE_MYOPATHY_WITH_CONGENITAL_CATARACT_HEARING_LOSS_AND_DEVELOPMENTAL_DELAY_(MPMCHD | 1 | MITOCHONDRIAL_PROGRESSIVE_MYOPATHY_WITH_CONGENITAL_CATARACT_HEARING_LOSS_AND_DEVELOPMENTAL_DELAY_(MPMCHD |
| ATRIAL_SEPTAL_DEFECT_TYPE_4 | 1 | ATRIAL_SEPTAL_DEFECT_TYPE_4 |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIK | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IIK |
| FG_SYNDROME_TYPE_4 | 1 | FG_SYNDROME_TYPE_4 |
| HYCC-related_leukodystrophy,_hypomyelinating | 1 | HYCC-related_leukodystrophy,_hypomyelinating |
| RENAL_CYSTS_AND_DIABETES_SYNDROME | 1 | RENAL_CYSTS_AND_DIABETES_SYNDROME |
| THROMBOCYTOPENIA_2 | 1 | THROMBOCYTOPENIA_2 |
| ALPHA-THALASSEMIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_X-LINKED_NON-DELETION_TYPE | 1 | ALPHA-THALASSEMIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_X-LINKED_NON-DELETION_TYPE |
| AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_PERIPHERAL_NEUROPATHY | 1 | AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_PERIPHERAL_NEUROPATHY |
| Epileptic_Encephalopathy_due_to_congenital_disorder_of_glycosylation | 1 | Epileptic_Encephalopathy_due_to_congenital_disorder_of_glycosylation |
| SNYDER-ROBINSON_SYNDROME | 1 | SNYDER-ROBINSON_SYNDROME |
| GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY | 1 | GLUTAMATE_FORMIMINOTRANSFERASE_DEFICIENCY |
| BENIGN_NEONATAL_EPILEPSY_TYPE_1 | 1 | BENIGN_NEONATAL_EPILEPSY_TYPE_1 |
| CANAVAN_DISEASE | 1 | CANAVAN_DISEASE |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_14 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_14 |
| AICARDI-GOUTIERES_SYNDROME | 1 | AICARDI-GOUTIERES_SYNDROME |
| GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_9 | 1 | GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_9 |
| STICKLER_SYNDROME_TYPE_1_NON-SYNDROMIC_OCULAR | 1 | STICKLER_SYNDROME_TYPE_1_NON-SYNDROMIC_OCULAR |
| ACHONDROGENESIS_TYPE_1B | 1 | ACHONDROGENESIS_TYPE_1B |
| BRANCHIOOTORENAL_SYNDROME_TYPE_2 | 1 | BRANCHIOOTORENAL_SYNDROME_TYPE_2 |
| AXENFELD-RIEGER_SYNDROME_TYPE_1 | 1 | AXENFELD-RIEGER_SYNDROME_TYPE_1 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CHRISTIANSON_TYPE | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CHRISTIANSON_TYPE |
| OGDEN_SYNDROME | 1 | OGDEN_SYNDROME |
| MYOPATHY_WITH_EXTRAPYRAMIDAL_SIGNS | 1 | MYOPATHY_WITH_EXTRAPYRAMIDAL_SIGNS |
| EARLY-ONSET_EPILEPTIC_ENCEPHALOPATHY_WITH_PERSISTENT_MYELINATION_DEFECT. | 1 | EARLY-ONSET_EPILEPTIC_ENCEPHALOPATHY_WITH_PERSISTENT_MYELINATION_DEFECT. |
| EPG5-related_immunodeficiency,_cardiomyopathy,_cataract,_hypopigmentation,_and_absent_corpus_callosum | 1 | EPG5-related_immunodeficiency,_cardiomyopathy,_cataract,_hypopigmentation,_and_absent_corpus_callosum |
| CENANI-LENZ_SYNDACTYLY_SYNDROME | 1 | CENANI-LENZ_SYNDACTYLY_SYNDROME |
| BRANCHIOOTIC_SYNDROME_TYPE_3 | 1 | BRANCHIOOTIC_SYNDROME_TYPE_3 |
| SCHINZEL-GIEDION_MIDFACE_RETRACTION_SYNDROME | 1 | SCHINZEL-GIEDION_MIDFACE_RETRACTION_SYNDROME |
| NEUTRAL_LIPID_STORAGE_DISEASE_WITH_MYOPATHY | 1 | NEUTRAL_LIPID_STORAGE_DISEASE_WITH_MYOPATHY |
| CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_5 | 1 | CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_5 |
| PONTOCEREBELLAR_HYPOPLASIA,_TYPE_10 | 1 | PONTOCEREBELLAR_HYPOPLASIA,_TYPE_10 |
| FACIAL_PARESIS,_HEREDITARY_CONGENITAL,_3 | 1 | FACIAL_PARESIS,_HEREDITARY_CONGENITAL,_3 |
| GLUTARIC_ACIDURIA_TYPE_2A | 1 | GLUTARIC_ACIDURIA_TYPE_2A |
| PONTOCEREBELLAR_HYPOPLASIA_AND_MICROCEPHALY | 1 | PONTOCEREBELLAR_HYPOPLASIA_AND_MICROCEPHALY |
| CLEFT_LIP/PALATE-ECTODERMAL_DYSPLASIA_SYNDROME | 1 | CLEFT_LIP/PALATE-ECTODERMAL_DYSPLASIA_SYNDROME |
| LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION | 1 | LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION |
| CONGENITAL_ICHTHYOSIS | 1 | CONGENITAL_ICHTHYOSIS |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_3 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_3 |
| MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_2 | 1 | MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_2 |
| JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_1 | 1 | JERVELL_AND_LANGE-NIELSEN_SYNDROME_TYPE_1 |
| RETINITIS_PIGMENTOSA_54 | 1 | RETINITIS_PIGMENTOSA_54 |
| BIRK-BAREL_SYNDROME | 1 | BIRK-BAREL_SYNDROME |
| NEONATAL_EPILEPSY_SPECTRUM | 1 | NEONATAL_EPILEPSY_SPECTRUM |
| CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_3 | 1 | CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_3 |
| INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ISOLATED_COMPLEX_I_DEFICIENCY | 1 | INFANTILE_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ISOLATED_COMPLEX_I_DEFICIENCY |
| SAETHRE-CHOTZEN_SYNDROME | 1 | SAETHRE-CHOTZEN_SYNDROME |
| SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_8 | 1 | SPINOCEREBELLAR_ATAXIA,_AUTOSOMAL_RECESSIVE_8 |
| MECONIUM_ILEUS | 1 | MECONIUM_ILEUS |
| 3-M_SYNDROME_2 | 1 | 3-M_SYNDROME_2 |
| NICOLAIDES-BARAITSER_SYNDROME | 1 | NICOLAIDES-BARAITSER_SYNDROME |
| MICROPHTHALMIA_AND_DIAPHRAGMATIC_HERNIA | 1 | MICROPHTHALMIA_AND_DIAPHRAGMATIC_HERNIA |
| METHYLMALONIC_ACIDURIA_TYPE_CBLB | 1 | METHYLMALONIC_ACIDURIA_TYPE_CBLB |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_72_(MRX72)_+/-_PARKINSONS | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_72_(MRX72)_+/-_PARKINSONS |
| CAUDAL_DUPLICATION_ANOMALY | 1 | CAUDAL_DUPLICATION_ANOMALY |
| METHYLENETETRAHYDROFOLATE_REDUCTASE_DEFICIENCY | 1 | METHYLENETETRAHYDROFOLATE_REDUCTASE_DEFICIENCY |
| 3-HYDROXY-3-METHYLGLUTARYL-COENZYME_A_LYASE_DEFICIENCY | 1 | 3-HYDROXY-3-METHYLGLUTARYL-COENZYME_A_LYASE_DEFICIENCY |
| AGAMMAGLOBULINEMIA_7,_AUTOSOMAL_RECESSIVE | 1 | AGAMMAGLOBULINEMIA_7,_AUTOSOMAL_RECESSIVE |
| GLYCOGEN_STORAGE_DISEASE_XII | 1 | GLYCOGEN_STORAGE_DISEASE_XII |
| GALLOWAY-MOWAT_SYNDROME:_MICROCEPHALY_AND_STEROID-RESISTANT_NEPHROTIC_SYNDROME | 1 | GALLOWAY-MOWAT_SYNDROME:_MICROCEPHALY_AND_STEROID-RESISTANT_NEPHROTIC_SYNDROME |
| LACTICACIDEMIA_DUE_TO_PDX1_DEFICIENCY | 1 | LACTICACIDEMIA_DUE_TO_PDX1_DEFICIENCY |
| HAJDU-CHENEY_SYNDROME | 1 | HAJDU-CHENEY_SYNDROME |
| IMMUNODEFICIENCY,_COMMON_VARIABLE,_2 | 1 | IMMUNODEFICIENCY,_COMMON_VARIABLE,_2 |
| PETERS_ANOMALY | 1 | PETERS_ANOMALY |
| MUCOPOLYSACCHARIDOSIS_TYPE_6 | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_6 |
| ENCEPHALOPATHY_ASSOCIATED_WITH_MULTIPLE_OXIDATIVE_PHOSPHORYLATION_COMPLEX_DEFICIENCIES_AND_A_MITOCHONDRIAL_TRANSLATION_DEFECT | 1 | ENCEPHALOPATHY_ASSOCIATED_WITH_MULTIPLE_OXIDATIVE_PHOSPHORYLATION_COMPLEX_DEFICIENCIES_AND_A_MITOCHONDRIAL_TRANSLATION_DEFECT |
| LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2L | 1 | LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2L |
| HEMIMEGALENCEPHALY_PIK3CA | 1 | HEMIMEGALENCEPHALY_PIK3CA |
| NANCE-HORAN_SYNDROME | 1 | NANCE-HORAN_SYNDROME |
| MICROPHTHALMIA_WITH_LINEAR_SKIN_LESIONS | 1 | MICROPHTHALMIA_WITH_LINEAR_SKIN_LESIONS |
| Hypogonadotropic_hypogonadism_2_with_or_without_anosmia | 1 | Hypogonadotropic_hypogonadism_2_with_or_without_anosmia |
| CONGENITAL_DISORDER_OF_DEGLYCOSYLATION | 1 | CONGENITAL_DISORDER_OF_DEGLYCOSYLATION |
| LATHOSTEROLOSIS | 1 | LATHOSTEROLOSIS |
| DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_13 | 1 | DEAFNESS_AUTOSOMAL_DOMINANT_TYPE_13 |
| DISTAL_ARTHROGRYPOSIS_TYPE_5D | 1 | DISTAL_ARTHROGRYPOSIS_TYPE_5D |
| CILIARY_DYSKINESIA,_PRIMARY,_23 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_23 |
| MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA | 1 | MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA |
| NONSYNDROMIC_DEAFNESS_DFNB48 | 1 | NONSYNDROMIC_DEAFNESS_DFNB48 |
| FGF10-related_lacrimo-auriculo-dento-digital_(LADD)_syndrome | 1 | FGF10-related_lacrimo-auriculo-dento-digital_(LADD)_syndrome |
| MALIGNANT_MIGRATING_PARTIAL_SEIZURES_OF_INFANCY | 1 | MALIGNANT_MIGRATING_PARTIAL_SEIZURES_OF_INFANCY |
| MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_5 | 1 | MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_5 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_LUBS_TYPE | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_LUBS_TYPE |
| SEVERE_INTELLECTUAL_DISABILITY,_EPILEPSY,_AND_CATARACTS | 1 | SEVERE_INTELLECTUAL_DISABILITY,_EPILEPSY,_AND_CATARACTS |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_14 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES),_TYPE_A,_14 |
| MITOCHONDRIAL_COMPLEX_III_DEFICIENCY,_NUCLEAR_TYPE_6 | 1 | MITOCHONDRIAL_COMPLEX_III_DEFICIENCY,_NUCLEAR_TYPE_6 |
| COLE-CARPENTER_SYNDROME | 1 | COLE-CARPENTER_SYNDROME |
| CRANIOMETAPHYSEAL_DYSPLASIA_JACKSON_TYPE | 1 | CRANIOMETAPHYSEAL_DYSPLASIA_JACKSON_TYPE |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_4 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_4 |
| LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2H | 1 | LIMB-GIRDLE_MUSCULAR_DYSTROPHY_TYPE_2H |
| INFANTILE_CEREBELLAR-RETINAL_DEGENERATION | 1 | INFANTILE_CEREBELLAR-RETINAL_DEGENERATION |
| INTESTINAL_ATRESIA,_MULTIPLE | 1 | INTESTINAL_ATRESIA,_MULTIPLE |
| PHOSPHOGLYCERATE_KINASE_1_DEFICIENCY | 1 | PHOSPHOGLYCERATE_KINASE_1_DEFICIENCY |
| AMELOGENESIS_IMPERFECTA_AND_GINGIVAL_FIBROMATOSIS_SYNDROME | 1 | AMELOGENESIS_IMPERFECTA_AND_GINGIVAL_FIBROMATOSIS_SYNDROME |
| AMINOACYLASE-1_DEFICIENCY | 1 | AMINOACYLASE-1_DEFICIENCY |
| PROP1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY | 1 | PROP1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY |
| MITOCHONDRIAL_TRANSLATION_DEFECT_ASSOCIATED_WITH_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ENCEPHALOPATHY | 1 | MITOCHONDRIAL_TRANSLATION_DEFECT_ASSOCIATED_WITH_HYPERTROPHIC_CARDIOMYOPATHY,_LACTIC_ACIDOSIS,_AND_ENCEPHALOPATHY |
| AUTISM/ID | 1 | AUTISM/ID |
| LUJAN-FRYNS_SYNDROME | 1 | LUJAN-FRYNS_SYNDROME |
| INTERSTITIAL_LUNG_DISEASE,_NEPHROTIC_SYNDROME,_AND_EPIDERMOLYSIS_BULLOSA,_CONGENITAL | 1 | INTERSTITIAL_LUNG_DISEASE,_NEPHROTIC_SYNDROME,_AND_EPIDERMOLYSIS_BULLOSA,_CONGENITAL |
| DPAGT1-CDG | 1 | DPAGT1-CDG |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_SHORT_LIMB-HAND_TYPE | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_SHORT_LIMB-HAND_TYPE |
| MICROVILLUS_INCLUSION_DISEASE | 1 | MICROVILLUS_INCLUSION_DISEASE |
| MCT8_(SLC16A2)-SPECIFIC_THYROID_HORMONE_CELL_TRANSPORTER_DEFICIENCY | 1 | MCT8_(SLC16A2)-SPECIFIC_THYROID_HORMONE_CELL_TRANSPORTER_DEFICIENCY |
| MESOAXIAL_SYNOSTOTIC_SYNDACTYLY_WITH_PHALANGEAL_REDUCTION,_MALIK-PERCIN_TYPE | 1 | MESOAXIAL_SYNOSTOTIC_SYNDACTYLY_WITH_PHALANGEAL_REDUCTION,_MALIK-PERCIN_TYPE |
| D-BIFUNCTIONAL_PROTEIN_DEFICIENCY | 1 | D-BIFUNCTIONAL_PROTEIN_DEFICIENCY |
| PRIMARY_CILIARY_DYSKINESIA-22 | 1 | PRIMARY_CILIARY_DYSKINESIA-22 |
| KCNH5-related_epilepsy_and_epileptic_encephalopathy | 1 | KCNH5-related_epilepsy_and_epileptic_encephalopathy |
| BAINBRIDGE-ROPERS_SYNDROME | 1 | BAINBRIDGE-ROPERS_SYNDROME |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C7 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C7 |
| DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_53 | 1 | DEAFNESS_AUTOSOMAL_RECESSIVE_TYPE_53 |
| SEVERE_AUTOSOMAL_DOMINANT_NOCTURNAL_FRONTAL_LOBE_EPILEPSY | 1 | SEVERE_AUTOSOMAL_DOMINANT_NOCTURNAL_FRONTAL_LOBE_EPILEPSY |
| ANEMIA,_SIDEROBLASTIC,_WITH_ATAXIA | 1 | ANEMIA,_SIDEROBLASTIC,_WITH_ATAXIA |
| JANSEN_METAPHYSEAL_CHONDRODYSPLASIA | 1 | JANSEN_METAPHYSEAL_CHONDRODYSPLASIA |
| CEREBRORETINAL_MICROANGIOPATHY_WITH_CALCIFICATIONS_AND_CYSTS | 1 | CEREBRORETINAL_MICROANGIOPATHY_WITH_CALCIFICATIONS_AND_CYSTS |
| LONG_QT_SYNDROME-5 | 1 | LONG_QT_SYNDROME-5 |
| GDF3_multiple_malformations | 1 | GDF3_multiple_malformations |
| CONGENITAL_SHORT_BOWEL_SYNDROME | 1 | CONGENITAL_SHORT_BOWEL_SYNDROME |
| TYROSINEMIA_TYPE_1 | 1 | TYROSINEMIA_TYPE_1 |
| JOUBERT_SYNDROME_TYPE_5 | 1 | JOUBERT_SYNDROME_TYPE_5 |
| CORNELIA_DE_LANGE_SYNDROME_TYPE_2 | 1 | CORNELIA_DE_LANGE_SYNDROME_TYPE_2 |
| CENPJ-related_developmental_disorder | 1 | CENPJ-related_developmental_disorder |
| DEAFNESS_X-LINKED_TYPE_1 | 1 | DEAFNESS_X-LINKED_TYPE_1 |
| EHLERS-DANLOS_SYNDROME_MUSCULOCONTRACTURAL_TYPE | 1 | EHLERS-DANLOS_SYNDROME_MUSCULOCONTRACTURAL_TYPE |
| CATARACT,_CONGENITAL_NUCLEAR,_AUTOSOMAL_RECESSIVE_2 | 1 | CATARACT,_CONGENITAL_NUCLEAR,_AUTOSOMAL_RECESSIVE_2 |
| BRACHYDACTYLY,_TYPE_A1 | 1 | BRACHYDACTYLY,_TYPE_A1 |
| HOLOPROSENCEPHALY_11 | 1 | HOLOPROSENCEPHALY_11 |
| ACHONDROPLASIA | 1 | ACHONDROPLASIA |
| CACNA1C-related_Timothy_syndrome | 1 | CACNA1C-related_Timothy_syndrome |
| ACHONDROGENESIS_TYPE_1A | 1 | ACHONDROGENESIS_TYPE_1A |
| BRACHYDACTYLY-SYNDACTYLY_SYNDROME | 1 | BRACHYDACTYLY-SYNDACTYLY_SYNDROME |
| MUCOPOLYSACCHARIDOSIS_TYPE_2 | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_2 |
| LEGIUS_SYNDROME | 1 | LEGIUS_SYNDROME |
| GRACILE_SYNDROME | 1 | GRACILE_SYNDROME |
| LEBER_CONGENITAL_AMAUROSIS_4 | 1 | LEBER_CONGENITAL_AMAUROSIS_4 |
| BOERJESON-FORSSMAN-LEHMANN_SYNDROME | 1 | BOERJESON-FORSSMAN-LEHMANN_SYNDROME |
| NESCAV_SYNDROME | 1 | NESCAV_SYNDROME |
| RAINE_SYNDROME | 1 | RAINE_SYNDROME |
| GRM6-related_congenital_stationary_night_blindness | 1 | GRM6-related_congenital_stationary_night_blindness |
| AUTOSOMAL-DOMINANT_HYPOTRICHOSIS_SIMPLEX | 1 | AUTOSOMAL-DOMINANT_HYPOTRICHOSIS_SIMPLEX |
| NOONAN_SYNDROME_5 | 1 | NOONAN_SYNDROME_5 |
| NEUROPATHY,_HEREDITARY_SENSORY,_TYPE_IIC | 1 | NEUROPATHY,_HEREDITARY_SENSORY,_TYPE_IIC |
| INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO,_biallelic | 1 | INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO,_biallelic |
| CATARACTS,_GROWTH_HORMONE_DEFICIENCY,_SENSORY_NEUROPATHY,_SENSORINEURAL_HEARING_LOSS,_AND_SKELETAL_DYSPLASIA | 1 | CATARACTS,_GROWTH_HORMONE_DEFICIENCY,_SENSORY_NEUROPATHY,_SENSORINEURAL_HEARING_LOSS,_AND_SKELETAL_DYSPLASIA |
| RETINITIS_PIGMENTOSA_28 | 1 | RETINITIS_PIGMENTOSA_28 |
| OPITZ_G/BBB_SYNDROME,_X-LINKED | 1 | OPITZ_G/BBB_SYNDROME,_X-LINKED |
| RESPIRATORY_CHAIN_DISORDER | 1 | RESPIRATORY_CHAIN_DISORDER |
| PITT_HOPKINS_2 | 1 | PITT_HOPKINS_2 |
| NEPHROTIC_SYNDROME,_TYPE_3 | 1 | NEPHROTIC_SYNDROME,_TYPE_3 |
| CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_1 | 1 | CEREBELLAR_ATAXIA_INTELLECTUAL_DEVELOPMENTAL_DISORDER_AND_DYSEQUILIBRIUM_SYNDROME_TYPE_1 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER-STEREOTYPIC_MOVEMENTS-EPILEPSY_AND/OR_CEREBRAL_MALFORMATIONS | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER-STEREOTYPIC_MOVEMENTS-EPILEPSY_AND/OR_CEREBRAL_MALFORMATIONS |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER-ANTERIOR_MAXILLARY_PROTRUSION-STRABISMUS | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER-ANTERIOR_MAXILLARY_PROTRUSION-STRABISMUS |
| ENLARGED_PARIETAL_FORAMINA/CRANIUM_BIFIDUM | 1 | ENLARGED_PARIETAL_FORAMINA/CRANIUM_BIFIDUM |
| NOT_IN_OMIM | 1 | NOT_IN_OMIM |
| NLGN4X-related_autism_and_intellectual_disability | 1 | NLGN4X-related_autism_and_intellectual_disability |
| PYRIDOXINE-DEPENDENT_EPILEPSY | 1 | PYRIDOXINE-DEPENDENT_EPILEPSY |
| HYPOMYELINATION_WITH_ATROPHY_OF_THE_BASAL_GANGLIA_AND_CEREBELLUM | 1 | HYPOMYELINATION_WITH_ATROPHY_OF_THE_BASAL_GANGLIA_AND_CEREBELLUM |
| RETICULAR_DYSGENESIS | 1 | RETICULAR_DYSGENESIS |
| BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_1 | 1 | BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_1 |
| NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_1 | 1 | NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_1 |
| MICROPHTHALMIA,_ISOLATED,_WITH_CATARACT_2 | 1 | MICROPHTHALMIA,_ISOLATED,_WITH_CATARACT_2 |
| JOUBERT_SYNDROME_9 | 1 | JOUBERT_SYNDROME_9 |
| ASPHYXIATING_THORACIC_DYSTROPHY_5 | 1 | ASPHYXIATING_THORACIC_DYSTROPHY_5 |
| CENTRAL_HYPOTHYROIDISM_AND_TESTICULAR_ENLARGEMENT | 1 | CENTRAL_HYPOTHYROIDISM_AND_TESTICULAR_ENLARGEMENT |
| BONE_MARROW_FAILURE_SYNDROME_2 | 1 | BONE_MARROW_FAILURE_SYNDROME_2 |
| MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_2 | 1 | MOSAIC_VARIEGATED_ANEUPLOIDY_SYNDROME_2 |
| AUTISM_SPECTRUM_DISORDERS | 1 | AUTISM_SPECTRUM_DISORDERS |
| HYPERTELORISM,_SEVERE,_WITH_MIDFACE_PROMINENCE,_MYOPIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_BONE_FRAGILITY | 1 | HYPERTELORISM,_SEVERE,_WITH_MIDFACE_PROMINENCE,_MYOPIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_BONE_FRAGILITY |
| ACROCALLOSAL_SYNDROME | 1 | ACROCALLOSAL_SYNDROME |
| METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLF | 1 | METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA_TYPE_CBLF |
| DANON_DISEASE | 1 | DANON_DISEASE |
| CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_1 | 1 | CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_1 |
| HNF4A-RELATED_MATURITY-ONSET_DIABETES_OF_THE_YOUNG_TYPE_1 | 1 | HNF4A-RELATED_MATURITY-ONSET_DIABETES_OF_THE_YOUNG_TYPE_1 |
| MICROSPHEROPHAKIA | 1 | MICROSPHEROPHAKIA |
| EPILEPTIC_ENCEPHALOPATHY_LENNOX-GASTAUT_TYPE | 1 | EPILEPTIC_ENCEPHALOPATHY_LENNOX-GASTAUT_TYPE |
| MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_4 | 1 | MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_4 |
| MICROPHTHALMIA_SYNDROMIC_TYPE_5 | 1 | MICROPHTHALMIA_SYNDROMIC_TYPE_5 |
| MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRQ_RELATED | 1 | MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRQ_RELATED |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_FRA12A_TYPE | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_FRA12A_TYPE |
| MITOCHONDRIAL_COMPLEX_II_DEFICIENCY | 1 | MITOCHONDRIAL_COMPLEX_II_DEFICIENCY |
| ATP8B1-RELATED_INTRAHEPATIC_CHOLESTASIS | 1 | ATP8B1-RELATED_INTRAHEPATIC_CHOLESTASIS |
| THYROID_HORMONE_METABOLISM,_ABNORMAL | 1 | THYROID_HORMONE_METABOLISM,_ABNORMAL |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_0 | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_0 |
| CONGENITAL_VARIANT_OF_RETT_SYNDROME | 1 | CONGENITAL_VARIANT_OF_RETT_SYNDROME |
| SETLEIS_SYNDROME | 1 | SETLEIS_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT,_28 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT,_28 |
| CHROMOSOME_XQ28_DUPLICATION_SYNDROME | 1 | CHROMOSOME_XQ28_DUPLICATION_SYNDROME |
| RPGRIP1-related_retinal_dystrophy | 1 | RPGRIP1-related_retinal_dystrophy |
| AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER-OCULAR_COLOBOMA-MICROGNATHIA | 1 | AGENESIS_OF_THE_CORPUS_CALLOSUM_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER-OCULAR_COLOBOMA-MICROGNATHIA |
| GTP_CYCLOHYDROLASE_1_DEFICIENCY | 1 | GTP_CYCLOHYDROLASE_1_DEFICIENCY |
| SPONDYLOMETAPHYSEAL_DYSPLASIA,_KOZLOWSKI_TYPE | 1 | SPONDYLOMETAPHYSEAL_DYSPLASIA,_KOZLOWSKI_TYPE |
| FIBROSIS_OF_EXTRAOCULAR_MUSCLES,_CONGENITAL,_5 | 1 | FIBROSIS_OF_EXTRAOCULAR_MUSCLES,_CONGENITAL,_5 |
| TEMPLE_BARRAISTER_SYNDROME | 1 | TEMPLE_BARRAISTER_SYNDROME |
| ALBRIGHT_HEREDITARY_OSTEODYSTROPHY | 1 | ALBRIGHT_HEREDITARY_OSTEODYSTROPHY |
| AICARDI-GOUTIERES_SYNDROME_7 | 1 | AICARDI-GOUTIERES_SYNDROME_7 |
| NOCTURNAL_FRONTAL_LOBE_EPILEPSY_TYPE_1 | 1 | NOCTURNAL_FRONTAL_LOBE_EPILEPSY_TYPE_1 |
| EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_9 | 1 | EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_9 |
| SMALL_PATELLA_SYNDROME | 1 | SMALL_PATELLA_SYNDROME |
| CRANIOSYNOSTOSIS,_TYPE_2 | 1 | CRANIOSYNOSTOSIS,_TYPE_2 |
| BARDET-BIEDL_SYNDROME_TYPE_13 | 1 | BARDET-BIEDL_SYNDROME_TYPE_13 |
| SPASTIC_PARAPLEGIA_X-LINKED_TYPE_2 | 1 | SPASTIC_PARAPLEGIA_X-LINKED_TYPE_2 |
| GM2-GANGLIOSIDOSIS_TYPE_1 | 1 | GM2-GANGLIOSIDOSIS_TYPE_1 |
| DISTAL_RENAL_TUBULAR_ACIDOSIS_WITH_DEAFNESS | 1 | DISTAL_RENAL_TUBULAR_ACIDOSIS_WITH_DEAFNESS |
| PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_AND_RADIAL-SPOKE_DEFECTS | 1 | PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_AND_RADIAL-SPOKE_DEFECTS |
| MYHRE_SYNDROME | 1 | MYHRE_SYNDROME |
| CPLANE1-related_Joubert_syndrome | 1 | CPLANE1-related_Joubert_syndrome |
| FRONTONASAL_DYSPLASIA_2 | 1 | FRONTONASAL_DYSPLASIA_2 |
| FATAL_INFANTILE_CARDIOENCEPHALOMYOPATHY_DUE_TO_CYTOCHROME_C_OXIDASE_DEFICIENCY | 1 | FATAL_INFANTILE_CARDIOENCEPHALOMYOPATHY_DUE_TO_CYTOCHROME_C_OXIDASE_DEFICIENCY |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B6 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B6 |
| CILIARY_DYSKINESIA,_PRIMARY,_29 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_29 |
| FETAL_AKINESIA_DEFORMATION_SEQUENCE | 1 | FETAL_AKINESIA_DEFORMATION_SEQUENCE |
| BARDET-BIEDL_SYNDROME_TYPE_15 | 1 | BARDET-BIEDL_SYNDROME_TYPE_15 |
| FRONTONASAL_DYSPLASIA_TYPE_1 | 1 | FRONTONASAL_DYSPLASIA_TYPE_1 |
| MANITOBA_OCULOTRICHOANAL_SYNDROME | 1 | MANITOBA_OCULOTRICHOANAL_SYNDROME |
| FILIPPI_SYNDROME._SYNDACTYLY,_TYPE_I,_WITH_MICROCEPHALY_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | FILIPPI_SYNDROME._SYNDACTYLY,_TYPE_I,_WITH_MICROCEPHALY_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| ALTERNATING_HEMIPLEGIA_OF_CHILDHOOD | 1 | ALTERNATING_HEMIPLEGIA_OF_CHILDHOOD |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_K | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_K |
| LEUKODYSTROPHY,_HYPOMYELINATING,_8,_WITH_OR_WITHOUT_OLIGODONTIA_AND/OR_HYPOGONADOTROPIC_HYPOGONADISM | 1 | LEUKODYSTROPHY,_HYPOMYELINATING,_8,_WITH_OR_WITHOUT_OLIGODONTIA_AND/OR_HYPOGONADOTROPIC_HYPOGONADISM |
| CRANIOLENTICULOSUTURAL_DYSPLASIA | 1 | CRANIOLENTICULOSUTURAL_DYSPLASIA |
| WNT5A-RELATED_ROBINOW_SYNDROME,_AUTOSOMAL_DOMINANT | 1 | WNT5A-RELATED_ROBINOW_SYNDROME,_AUTOSOMAL_DOMINANT |
| X-LINKED_HYPOSPADIAS_TYPE_2 | 1 | X-LINKED_HYPOSPADIAS_TYPE_2 |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A2 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A2 |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IW | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IW |
| BLEPHAROPHIMOSIS-INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | BLEPHAROPHIMOSIS-INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| SEVERE_COMBINED_IMMUNE_DEFICIENCY,_AUTOSOMAL_RECESSIVE,_T_CELL-NEGATIVE,_B_CELL_-POSITIVE,_NK_CELL-NEGATIVE,_JAK3-RELATED | 1 | SEVERE_COMBINED_IMMUNE_DEFICIENCY,_AUTOSOMAL_RECESSIVE,_T_CELL-NEGATIVE,_B_CELL_-POSITIVE,_NK_CELL-NEGATIVE,_JAK3-RELATED |
| CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_6 | 1 | CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_6 |
| ALG3-related_congenital_disorder_of_glycosylation | 1 | ALG3-related_congenital_disorder_of_glycosylation |
| MALFORMATIONS_OF_CORTICAL_DEVELOPMENT_AND_MICROCEPHALY. | 1 | MALFORMATIONS_OF_CORTICAL_DEVELOPMENT_AND_MICROCEPHALY. |
| LISSENCEPHALY_4 | 1 | LISSENCEPHALY_4 |
| CHROMOSOME_17Q21.31_MICRODELETION_SYNDROME | 1 | CHROMOSOME_17Q21.31_MICRODELETION_SYNDROME |
| STICKLER_SYNDROME_TYPE_3 | 1 | STICKLER_SYNDROME_TYPE_3 |
| ANOPHTHALMIA/MICROPHTHALMIA | 1 | ANOPHTHALMIA/MICROPHTHALMIA |
| DYSTONIA_6,_TORSION | 1 | DYSTONIA_6,_TORSION |
| NOONAN_SYNDROME_4 | 1 | NOONAN_SYNDROME_4 |
| NEUTROPENIA,_SEVERE_CONGENITAL_3,_AUTOSOMAL_RECESSIVE | 1 | NEUTROPENIA,_SEVERE_CONGENITAL_3,_AUTOSOMAL_RECESSIVE |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_58 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_58 |
| CASP2-related_developmental_disorder_with_lissencephaly | 1 | CASP2-related_developmental_disorder_with_lissencephaly |
| DYSTONIA_TYPE_5 | 1 | DYSTONIA_TYPE_5 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CABEZAS_TYPE | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_CABEZAS_TYPE |
| CAPILLARY_MALFORMATION-ARTERIOVENOUS_MALFORMATION_1 | 1 | CAPILLARY_MALFORMATION-ARTERIOVENOUS_MALFORMATION_1 |
| CRANIOFACIAL_DYSMORPHISM,_SKELETAL_ANOMALIES,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME | 1 | CRANIOFACIAL_DYSMORPHISM,_SKELETAL_ANOMALIES,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME |
| ANTLEY-BIXLER_SYNDROME | 1 | ANTLEY-BIXLER_SYNDROME |
| NOG-related-symphalangism_spectrum_disorder_ | 1 | NOG-related-symphalangism_spectrum_disorder_ |
| HEMIMEGALENCEPHALY_AKT3 | 1 | HEMIMEGALENCEPHALY_AKT3 |
| NEURODEGENERATION_DUE_TO_CEREBRAL_FOLATE_TRANSPORT_DEFICIENCY | 1 | NEURODEGENERATION_DUE_TO_CEREBRAL_FOLATE_TRANSPORT_DEFICIENCY |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_PAKISTANI_TYPE | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_PAKISTANI_TYPE |
| SPINAL_MUSCULAR_ATROPHY_ASSOCIATED_WITH_PROGRESSIVE_MYOCLONIC_EPILEPSY | 1 | SPINAL_MUSCULAR_ATROPHY_ASSOCIATED_WITH_PROGRESSIVE_MYOCLONIC_EPILEPSY |
| HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_1 | 1 | HYPOTHYROIDISM,_CONGENITAL,_NONGOITROUS,_1 |
| MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_3 | 1 | MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_3 |
| THANATOPHORIC_DYSPLASIA_TYPE_2 | 1 | THANATOPHORIC_DYSPLASIA_TYPE_2 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_94 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_94 |
| Developmental_delay,_ID,_obesity_and_dysmorphic_features | 1 | Developmental_delay,_ID,_obesity_and_dysmorphic_features |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_10 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_TYPE_10 |
| PRSS56-related_microphthalmia | 1 | PRSS56-related_microphthalmia |
| COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_4 | 1 | COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_4 |
| MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_3 | 1 | MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME_3 |
| KERATOCONUS_WITH_CATARACT;_EDICT_SYNDROME | 1 | KERATOCONUS_WITH_CATARACT;_EDICT_SYNDROME |
| SPASTIC_PARAPLEGIA-11 | 1 | SPASTIC_PARAPLEGIA-11 |
| OCULOCUTANEOUS_ALBINISM_TYPE_3 | 1 | OCULOCUTANEOUS_ALBINISM_TYPE_3 |
| AGENESIS_OF_THE_CORPUS_CALLOSUM | 1 | AGENESIS_OF_THE_CORPUS_CALLOSUM |
| CSPP1-related_Joubert_syndrome_with_or_without_Jeune_asphyxiating_thoracic_dystrophy | 1 | CSPP1-related_Joubert_syndrome_with_or_without_Jeune_asphyxiating_thoracic_dystrophy |
| FAMILIAL_SCHIZENCEPHALY,_EMX2-RELATED | 1 | FAMILIAL_SCHIZENCEPHALY,_EMX2-RELATED |
| ALG2-CDG | 1 | ALG2-CDG |
| LEIGH_SYNDROME_DUE_TO_MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY | 1 | LEIGH_SYNDROME_DUE_TO_MITOCHONDRIAL_COMPLEX_IV_DEFICIENCY |
| ATELOSTEOGENESIS_TYPE_1 | 1 | ATELOSTEOGENESIS_TYPE_1 |
| MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME | 1 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS_SYNDROME |
| TRICHOHEPATOENTERIC_SYNDROME | 1 | TRICHOHEPATOENTERIC_SYNDROME |
| OSTEOGENESIS_IMPERFECTA,_TYPE_VIII | 1 | OSTEOGENESIS_IMPERFECTA,_TYPE_VIII |
| MICROPHTHALMIA_SYNDROMIC_TYPE_3 | 1 | MICROPHTHALMIA_SYNDROMIC_TYPE_3 |
| EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_4 | 1 | EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_4 |
| HYPERPROLINEMIA_TYPE_2 | 1 | HYPERPROLINEMIA_TYPE_2 |
| MICROPHTHALMIA_ISOLATED_WITH_CATARACT_TYPE_4 | 1 | MICROPHTHALMIA_ISOLATED_WITH_CATARACT_TYPE_4 |
| HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM_SYNDROME | 1 | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM_SYNDROME |
| MYOTUBULAR_MYOPATHY,_X-LINKED | 1 | MYOTUBULAR_MYOPATHY,_X-LINKED |
| LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_2 | 1 | LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_TYPE_2 |
| CTDP1-related_congenital_cataracts,_dysmorphism_and_neuropathy | 1 | CTDP1-related_congenital_cataracts,_dysmorphism_and_neuropathy |
| SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_3 | 1 | SPONDYLOCOSTAL_DYSOSTOSIS_TYPE_3 |
| HYPERAMMONEMIA_DUE_TO_CARBONIC_ANHYDRASE_VA_DEFICIENCY | 1 | HYPERAMMONEMIA_DUE_TO_CARBONIC_ANHYDRASE_VA_DEFICIENCY |
| LONP1-related_Codas_syndrome | 1 | LONP1-related_Codas_syndrome |
| MEGALENCEPHALY-CAPILLARY_MALFORMATION-POLYMICROGYRIA_SYNDROME,_SOMATIC_3 | 1 | MEGALENCEPHALY-CAPILLARY_MALFORMATION-POLYMICROGYRIA_SYNDROME,_SOMATIC_3 |
| DISTINCT_DNA_BREAKAGE_SYNDROME | 1 | DISTINCT_DNA_BREAKAGE_SYNDROME |
| HEARING_LOSS | 1 | HEARING_LOSS |
| ACYL-COA_DEHYDROGENASE_FAMILY_MEMBER_TYPE_9_DEFICIENCY | 1 | ACYL-COA_DEHYDROGENASE_FAMILY_MEMBER_TYPE_9_DEFICIENCY |
| DOPA-RESPONSIVE_DYSTONIA_DUE_TO_SEPIAPTERIN_REDUCTASE_DEFICIENCY | 1 | DOPA-RESPONSIVE_DYSTONIA_DUE_TO_SEPIAPTERIN_REDUCTASE_DEFICIENCY |
| DENTIN_DYSPLASIA,_TYPE_I,_WITH_MICRODONTIA_AND_MISSHAPEN_TEETH | 1 | DENTIN_DYSPLASIA,_TYPE_I,_WITH_MICRODONTIA_AND_MISSHAPEN_TEETH |
| METHYLMALONYL-COA_EPIMERASE_DEFICIENCY | 1 | METHYLMALONYL-COA_EPIMERASE_DEFICIENCY |
| INTELLECTUAL_DISABILITY_WITH_EPILEPSY | 1 | INTELLECTUAL_DISABILITY_WITH_EPILEPSY |
| AICA-RIBOSURIA | 1 | AICA-RIBOSURIA |
| CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_4 | 1 | CEREBRAL_PALSY_SPASTIC_QUADRIPLEGIC_TYPE_4 |
| PERIVENTRICULAR_HETEROTOPIA | 1 | PERIVENTRICULAR_HETEROTOPIA |
| MACROCEPHALY,_NEURODEVELOPMENTAL_DELAY,_AND_SEIZURES | 1 | MACROCEPHALY,_NEURODEVELOPMENTAL_DELAY,_AND_SEIZURES |
| CARBAMOYL_PHOSPHATE_SYNTHETASE_1_DEFICIENCY | 1 | CARBAMOYL_PHOSPHATE_SYNTHETASE_1_DEFICIENCY |
| OPSISMODYSPLASIA | 1 | OPSISMODYSPLASIA |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_7 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_7 |
| NEMALINE_MYOPATHY_3 | 1 | NEMALINE_MYOPATHY_3 |
| HYPOTONIA-CYSTINURIA_SYNDROME | 1 | HYPOTONIA-CYSTINURIA_SYNDROME |
| SINGLETON-MERTEN_SYNDROME | 1 | SINGLETON-MERTEN_SYNDROME |
| WALKER_WARBERG_SYNDROME | 1 | WALKER_WARBERG_SYNDROME |
| SPECIFIC_LANGUAGE_IMPAIRMENT_5 | 1 | SPECIFIC_LANGUAGE_IMPAIRMENT_5 |
| HOMEOTIC_ARM-TO-LEG_TRANSFORMATION_ASSOCIATED_WITH_GENOMIC_REARRANGEMENTS_AT_THE_PITX1_LOCUS | 1 | HOMEOTIC_ARM-TO-LEG_TRANSFORMATION_ASSOCIATED_WITH_GENOMIC_REARRANGEMENTS_AT_THE_PITX1_LOCUS |
| PANCREATIC_AGENESIS | 1 | PANCREATIC_AGENESIS |
| BARTH_SYNDROME | 1 | BARTH_SYNDROME |
| PARIETAL_FORAMINA_2 | 1 | PARIETAL_FORAMINA_2 |
| METHYLCOBALAMIN_DEFICIENCY_TYPE_G | 1 | METHYLCOBALAMIN_DEFICIENCY_TYPE_G |
| FEINGOLD_SYNDROME_TYPE_1 | 1 | FEINGOLD_SYNDROME_TYPE_1 |
| SPONDYLOENCHONDRODYSPLASIA_WITH_IMMUNE_DYSREGULATION | 1 | SPONDYLOENCHONDRODYSPLASIA_WITH_IMMUNE_DYSREGULATION |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_44 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_44 |
| AUTOSOMAL-RECESSIVE_CEREBELLAR_ATAXIA_WITH_SPASTICITY. | 1 | AUTOSOMAL-RECESSIVE_CEREBELLAR_ATAXIA_WITH_SPASTICITY. |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_21 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_21 |
| AMISH_INFANTILE_EPILEPSY_SYNDROME | 1 | AMISH_INFANTILE_EPILEPSY_SYNDROME |
| THROMBOCYTOPENIA-ABSENT_RADIUS_SYNDROME | 1 | THROMBOCYTOPENIA-ABSENT_RADIUS_SYNDROME |
| SLIT-ROBO_RHO_GTPASE-ACTIVATING_PROTEIN_3 | 1 | SLIT-ROBO_RHO_GTPASE-ACTIVATING_PROTEIN_3 |
| SEIZURES-SENSORINEURAL_DEAFNESS-ATAXIA-INTELLECTUAL_DEVELOPMENTAL_DISORDER-ELECTROLYTE_IMBALANCE | 1 | SEIZURES-SENSORINEURAL_DEAFNESS-ATAXIA-INTELLECTUAL_DEVELOPMENTAL_DISORDER-ELECTROLYTE_IMBALANCE |
| MICROPHTHALMIA_ISOLATED_WITH_COLOBOMA_TYPE_5 | 1 | MICROPHTHALMIA_ISOLATED_WITH_COLOBOMA_TYPE_5 |
| BRUCK_SYNDROME_TYPE_2 | 1 | BRUCK_SYNDROME_TYPE_2 |
| KNOBLOCH_SYNDROME_TYPE_I | 1 | KNOBLOCH_SYNDROME_TYPE_I |
| COG4-CDG | 1 | COG4-CDG |
| CONGENITAL_HEART_DEFECTS,_MULTIPLE_TYPES,_6 | 1 | CONGENITAL_HEART_DEFECTS,_MULTIPLE_TYPES,_6 |
| SPINAL_MUSCULAR_ATROPHY_WITH_RESPIRATORY_DISTRESS_1 | 1 | SPINAL_MUSCULAR_ATROPHY_WITH_RESPIRATORY_DISTRESS_1 |
| TUBA1A-associated_tubulinopathy | 1 | TUBA1A-associated_tubulinopathy |
| ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_IV | 1 | ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_IV |
| LEUKOENCEPHALOPATHY_MEGALENCEPHALIC_WITH_SUBCORTICAL_CYSTS | 1 | LEUKOENCEPHALOPATHY_MEGALENCEPHALIC_WITH_SUBCORTICAL_CYSTS |
| CRB1-related_Leber_Congenital_Amaurosis_and_Retinitis_Pigmentosa | 1 | CRB1-related_Leber_Congenital_Amaurosis_and_Retinitis_Pigmentosa |
| LOEYS-DIETZ_SYNDROME,_TYPE_4 | 1 | LOEYS-DIETZ_SYNDROME,_TYPE_4 |
| CILIARY_DYSKINESIA,_PRIMARY,_18 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_18 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_63 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_63 |
| MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_TYPE_2S | 1 | MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_TYPE_2S |
| CAMPTODACTYLY_TALL_STATURE_AND_HEARING_LOSS_SYNDROME | 1 | CAMPTODACTYLY_TALL_STATURE_AND_HEARING_LOSS_SYNDROME |
| CENTRONUCLEAR_MYOPATHY_WITH_DILATED_CARDIOMYOPATHY | 1 | CENTRONUCLEAR_MYOPATHY_WITH_DILATED_CARDIOMYOPATHY |
| HIBCH_DEFICIENCY | 1 | HIBCH_DEFICIENCY |
| PITUITARY_HORMONE_DEFICIENCY_COMBINED_TYPE_3 | 1 | PITUITARY_HORMONE_DEFICIENCY_COMBINED_TYPE_3 |
| DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_2 | 1 | DYSKERATOSIS_CONGENITA,_AUTOSOMAL_RECESSIVE_2 |
| DYSSEGMENTAL_DYSPLASIA_SILVERMAN-HANDMAKER_TYPE | 1 | DYSSEGMENTAL_DYSPLASIA_SILVERMAN-HANDMAKER_TYPE |
| SUSCEPTIBILITY_TO_AUTISM_TYPE_17 | 1 | SUSCEPTIBILITY_TO_AUTISM_TYPE_17 |
| AUTOSOMAL_RECESSIVE_TYPICAL_NEMALINE_MYOPATHY | 1 | AUTOSOMAL_RECESSIVE_TYPICAL_NEMALINE_MYOPATHY |
| L-2-HYDROXYGLUTARIC_ACIDURIA | 1 | L-2-HYDROXYGLUTARIC_ACIDURIA |
| DEVELOPMENTAL_AND_EXPRESSIVE_LANGUAGE_DELAY | 1 | DEVELOPMENTAL_AND_EXPRESSIVE_LANGUAGE_DELAY |
| MULTIPLE_SYNOSTOSES_SYNDROME_TYPE_3 | 1 | MULTIPLE_SYNOSTOSES_SYNDROME_TYPE_3 |
| FANCM-RELATED_FANCONI_ANEMIA | 1 | FANCM-RELATED_FANCONI_ANEMIA |
| MARTSOLF_SYNDROME | 1 | MARTSOLF_SYNDROME |
| CATEL-MANZKE_SYNDROME | 1 | CATEL-MANZKE_SYNDROME |
| HYDROPS-ECTOPIC_CALCIFICATION-MOTH-EATEN_SKELETAL_DYSPLASIA | 1 | HYDROPS-ECTOPIC_CALCIFICATION-MOTH-EATEN_SKELETAL_DYSPLASIA |
| ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_II | 1 | ANEMIA,_DYSERYTHROPOIETIC_CONGENITAL,_TYPE_II |
| Smith-Kingsmore_syndrome | 1 | Smith-Kingsmore_syndrome |
| HAND-FOOT-GENITAL_SYNDROME | 1 | HAND-FOOT-GENITAL_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_ISOLATED_GROWTH_HORMONE_DEFICIENCY | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_ISOLATED_GROWTH_HORMONE_DEFICIENCY |
| ICHTHYOSIS_PREMATURITY_SYNDROME | 1 | ICHTHYOSIS_PREMATURITY_SYNDROME |
| sjogren-larsson_syndrome | 1 | sjogren-larsson_syndrome |
| CLEFT_PALATE,_X-LINKED | 1 | CLEFT_PALATE,_X-LINKED |
| GLYCEROL_KINASE_DEFICIENCY | 1 | GLYCEROL_KINASE_DEFICIENCY |
| POLYMICROGYRIA_ASYMMETRIC | 1 | POLYMICROGYRIA_ASYMMETRIC |
| MECKEL_SYNDROME_TYPE_5 | 1 | MECKEL_SYNDROME_TYPE_5 |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IX | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IX |
| 3-METHYLGLUTACONIC_ACIDURIA,_TYPE_VII,_WITH_CATARACTS,_NEUROLOGIC_INVOLVEMENT_AND_NEUTROPENIA | 1 | 3-METHYLGLUTACONIC_ACIDURIA,_TYPE_VII,_WITH_CATARACTS,_NEUROLOGIC_INVOLVEMENT_AND_NEUTROPENIA |
| LRP5-related_exudative_vitreoretinopathy | 1 | LRP5-related_exudative_vitreoretinopathy |
| TARP_SYNDROME | 1 | TARP_SYNDROME |
| MANDIBULOFACIAL_DYSOSTOSIS_WITH_MICROCEPHALY | 1 | MANDIBULOFACIAL_DYSOSTOSIS_WITH_MICROCEPHALY |
| METAPHYSEAL_ANADYSPLASIA_TYPE_1 | 1 | METAPHYSEAL_ANADYSPLASIA_TYPE_1 |
| ATAXIA_WITH_OCULOMOTOR_APRAXIA_1 | 1 | ATAXIA_WITH_OCULOMOTOR_APRAXIA_1 |
| 3-METHYLCROTONYL-COA_CARBOXYLASE_DEFICIENCY | 1 | 3-METHYLCROTONYL-COA_CARBOXYLASE_DEFICIENCY |
| SCHNECKENBECKEN_DYSPLASIA | 1 | SCHNECKENBECKEN_DYSPLASIA |
| NEPHRONOPHTHISIS_TYPE_1 | 1 | NEPHRONOPHTHISIS_TYPE_1 |
| CONGENITAL_HEART_DISEASE,_NONSYNDROMIC,_2 | 1 | CONGENITAL_HEART_DISEASE,_NONSYNDROMIC,_2 |
| PLATYSPONDYLY_WITH_AMELOGENESIS_IMPERFECTA | 1 | PLATYSPONDYLY_WITH_AMELOGENESIS_IMPERFECTA |
| PHOSPHOGLYCERATE_DEHYDROGENASE_DEFICIENCY | 1 | PHOSPHOGLYCERATE_DEHYDROGENASE_DEFICIENCY |
| CATARACT-MICROCORNEA_SYNDROME | 1 | CATARACT-MICROCORNEA_SYNDROME |
| ASPHYXIATING_THORACIC_DYSTROPHY_2 | 1 | ASPHYXIATING_THORACIC_DYSTROPHY_2 |
| EHLERS-DANLOS_SYNDROME_WITH_PROGRESSIVE_KYPHOSCOLIOSIS,_MYOPATHY,_AND_HEARING_LOSS | 1 | EHLERS-DANLOS_SYNDROME_WITH_PROGRESSIVE_KYPHOSCOLIOSIS,_MYOPATHY,_AND_HEARING_LOSS |
| DIHYDROLIPOAMIDE_DEHYDROGENASE_(E3)_DEFICIENCY | 1 | DIHYDROLIPOAMIDE_DEHYDROGENASE_(E3)_DEFICIENCY |
| HYPOCHONDROPLASIA | 1 | HYPOCHONDROPLASIA |
| CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_2 | 1 | CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_2 |
| NEU-LAXOVA | 1 | NEU-LAXOVA |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_13 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_13 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_19 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_DOMINANT_19 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_JARID1C-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_JARID1C-RELATED |
| MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_6 | 1 | MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_6 |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IS | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IS |
| SYNDROMIC_OSTEOGENESIS_IMPERFECTA | 1 | SYNDROMIC_OSTEOGENESIS_IMPERFECTA |
| EPILEPSY,_X-LINKED,_WITH_VARIABLE_LEARNING_DISABILITIES_AND_BEHAVIOR_DISORDERS | 1 | EPILEPSY,_X-LINKED,_WITH_VARIABLE_LEARNING_DISABILITIES_AND_BEHAVIOR_DISORDERS |
| SYNDROMIC_X-LINKED_INTELLECTUAL_DISABILITY | 1 | SYNDROMIC_X-LINKED_INTELLECTUAL_DISABILITY |
| SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME | 1 | SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME |
| CONGENITAL_DIARRHEAL_DISORDERS | 1 | CONGENITAL_DIARRHEAL_DISORDERS |
| LERI-WEILL_DYSCHONDROSTEOSIS | 1 | LERI-WEILL_DYSCHONDROSTEOSIS |
| USHER_SYNDROME_TYPE_1D | 1 | USHER_SYNDROME_TYPE_1D |
| PERIVENTRICULAR_NEURONAL_HETEROTOPIA | 1 | PERIVENTRICULAR_NEURONAL_HETEROTOPIA |
| TREACHER_COLLINS_SYNDROME_TYPE_2 | 1 | TREACHER_COLLINS_SYNDROME_TYPE_2 |
| FAMILIAL_COLD_AUTOINFLAMMATORY_SYNDROME_3 | 1 | FAMILIAL_COLD_AUTOINFLAMMATORY_SYNDROME_3 |
| CENTRAL_HYPOVENTILATION_SYNDROME,_CONGENITAL,_WITH_OR_WITHOUT_HIRSCHSPRUNG_DISEASE | 1 | CENTRAL_HYPOVENTILATION_SYNDROME,_CONGENITAL,_WITH_OR_WITHOUT_HIRSCHSPRUNG_DISEASE |
| ICHTHYOSIS_AUTOSOMAL_RECESSIVE_WITH_HYPOTRICHOSIS | 1 | ICHTHYOSIS_AUTOSOMAL_RECESSIVE_WITH_HYPOTRICHOSIS |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_93 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_93 |
| MICROCEPHALY_CORTICAL_MALFORMATIONS_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | MICROCEPHALY_CORTICAL_MALFORMATIONS_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_7 | 1 | PEROXISOME_BIOGENESIS_DISORDER_COMPLEMENTATION_GROUP_7 |
| MECKEL_SYNDROME_9 | 1 | MECKEL_SYNDROME_9 |
| PORENCEPHALY_2 | 1 | PORENCEPHALY_2 |
| NIEMANN-PICK_DISEASE,_TYPE_C1 | 1 | NIEMANN-PICK_DISEASE,_TYPE_C1 |
| CATARACT_ZONULAR_PULVERULENT_CATARACT_TYPE_3 | 1 | CATARACT_ZONULAR_PULVERULENT_CATARACT_TYPE_3 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_90 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_90 |
| CHOLESTEROL_DESMOLASE-DEFICIENT_CONGENITAL_ADRENAL_HYPERPLASIA | 1 | CHOLESTEROL_DESMOLASE-DEFICIENT_CONGENITAL_ADRENAL_HYPERPLASIA |
| EPIMERASE-DEFICIENCY_GALACTOSEMIA | 1 | EPIMERASE-DEFICIENCY_GALACTOSEMIA |
| PALLISTER-HALL_SYNDROME | 1 | PALLISTER-HALL_SYNDROME |
| METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLC_TYPE | 1 | METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_CBLC_TYPE |
| FYCO1-related_congenital_cataract | 1 | FYCO1-related_congenital_cataract |
| BARDET-BIEDL_SYNDROME_TYPE_2 | 1 | BARDET-BIEDL_SYNDROME_TYPE_2 |
| FATAL_ENCEPHALOPATHY,_LACTIC_ACIDOSIS,_AND_SEVERE_MTDNA_DEPLETION_IN_MUSCLE | 1 | FATAL_ENCEPHALOPATHY,_LACTIC_ACIDOSIS,_AND_SEVERE_MTDNA_DEPLETION_IN_MUSCLE |
| FRUCTOSE_1,6_BISPHOSPHATASE_DEFICIENCY | 1 | FRUCTOSE_1,6_BISPHOSPHATASE_DEFICIENCY |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_7 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_7 |
| SYMPTOMATIC_EPILEPSY_AND_SKULL_DYSPLASIA | 1 | SYMPTOMATIC_EPILEPSY_AND_SKULL_DYSPLASIA |
| SPONDYLOMETAPHYSEAL_DYSPLASIA_WITH_CONE-ROD_DYSTROPHY | 1 | SPONDYLOMETAPHYSEAL_DYSPLASIA_WITH_CONE-ROD_DYSTROPHY |
| ACROMELIC_FRONTONASAL_DYSOSTOSIS | 1 | ACROMELIC_FRONTONASAL_DYSOSTOSIS |
| CAPRIN1-related_neurodevelopmental_disorder_ | 1 | CAPRIN1-related_neurodevelopmental_disorder_ |
| PHOSPHORIBOSYLPYROPHOSPHATE_SYNTHETASE_SUPERACTIVITY | 1 | PHOSPHORIBOSYLPYROPHOSPHATE_SYNTHETASE_SUPERACTIVITY |
| GDF5-related_Symphalangism_Spectrum_Disorder | 1 | GDF5-related_Symphalangism_Spectrum_Disorder |
| THANATOPHORIC_DYSPLASIA_TYPE_1 | 1 | THANATOPHORIC_DYSPLASIA_TYPE_1 |
| ACROCEPHALOPOLYSYNDACTYLY_TYPE_2 | 1 | ACROCEPHALOPOLYSYNDACTYLY_TYPE_2 |
| IRON-REFRACTORY_IRON_DEFICIENCY_ANEMIA | 1 | IRON-REFRACTORY_IRON_DEFICIENCY_ANEMIA |
| ATRIAL_SEPTAL_DEFECT_9 | 1 | ATRIAL_SEPTAL_DEFECT_9 |
| 3-HYDROXY-3-METHYLGLUTARYL-COA_SYNTHASE_2_DEFICIENCY | 1 | 3-HYDROXY-3-METHYLGLUTARYL-COA_SYNTHASE_2_DEFICIENCY |
| CITRULLINEMIA_TYPE_I | 1 | CITRULLINEMIA_TYPE_I |
| MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_4A | 1 | MITOCHONDRIAL_DNA_DEPLETION_SYNDROME_4A |
| ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_1 | 1 | ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_1 |
| RENAL-HEPATIC_CILIOPATHY | 1 | RENAL-HEPATIC_CILIOPATHY |
| LEUKOENCEPHALOPATHY,_CYSTIC,_WITHOUT_MEGALENCEPHALY | 1 | LEUKOENCEPHALOPATHY,_CYSTIC,_WITHOUT_MEGALENCEPHALY |
| KEUTEL_SYNDROME | 1 | KEUTEL_SYNDROME |
| CONGENITAL_CLUBFOOT | 1 | CONGENITAL_CLUBFOOT |
| INFANTILE_NEUROAXONAL_DYSTROPHY_1 | 1 | INFANTILE_NEUROAXONAL_DYSTROPHY_1 |
| TREACHER_COLLINS_SYNDROME_TYPE_1 | 1 | TREACHER_COLLINS_SYNDROME_TYPE_1 |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_23 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_23 |
| LEUKODYSTROPHY,_HYPOMYELINATING,_3 | 1 | LEUKODYSTROPHY,_HYPOMYELINATING,_3 |
| BRACHYDACTYLY-INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME | 1 | BRACHYDACTYLY-INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_2A | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_2A |
| PREMATURE_OVARIAN_FAILURE_SYNDROME_TYPE_1 | 1 | PREMATURE_OVARIAN_FAILURE_SYNDROME_TYPE_1 |
| DISTAL_ARTHROGRYPOSIS_TYPE_2A | 1 | DISTAL_ARTHROGRYPOSIS_TYPE_2A |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_5 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_DOMINANT_TYPE_5 |
| KOHLSCHUTTER-TONZ_SYNDROME | 1 | KOHLSCHUTTER-TONZ_SYNDROME |
| NOONAN_SYNDROME_TYPE_6 | 1 | NOONAN_SYNDROME_TYPE_6 |
| NIJMEGEN_BREAKAGE_SYNDROME | 1 | NIJMEGEN_BREAKAGE_SYNDROME |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_STRUDWICK_TYPE | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_STRUDWICK_TYPE |
| ALPHA-METHYLACETOACETIC_ACIDURIA | 1 | ALPHA-METHYLACETOACETIC_ACIDURIA |
| HYPOTHRYOIDISM,_CONGENITAL,_NONGOITROUS_4 | 1 | HYPOTHRYOIDISM,_CONGENITAL,_NONGOITROUS_4 |
| COX15-related_Leigh_Syndrome | 1 | COX15-related_Leigh_Syndrome |
| PERLMAN_SYNDROME | 1 | PERLMAN_SYNDROME |
| MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_2 | 1 | MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_2 |
| MUCOPOLYSACCHARIDOSIS_TYPE_9 | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_9 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_3 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_3 |
| ACROCAPITOFEMORAL_DYSPLASIA | 1 | ACROCAPITOFEMORAL_DYSPLASIA |
| CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_5 | 1 | CONGENITAL_HYPOTHYROIDISM_NON-GOITROUS_TYPE_5 |
| RIDDLE_SYNDROME | 1 | RIDDLE_SYNDROME |
| INFANTILE_NEPHRONOPHTHISIS_AND_INTELLECTUAL_DISABILITY | 1 | INFANTILE_NEPHRONOPHTHISIS_AND_INTELLECTUAL_DISABILITY |
| ACROFACIAL_DYSOSTOSIS_1,_NAGER_TYPE | 1 | ACROFACIAL_DYSOSTOSIS_1,_NAGER_TYPE |
| CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_4 | 1 | CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_4 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_SYP-RELATED | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_SYP-RELATED |
| UROCANASE_DEFICIENCY | 1 | UROCANASE_DEFICIENCY |
| RETINAL_ARTERIAL_MACROANEURYSM_WITH_SUPRAVALVULAR_PULMONIC_STENOSIS | 1 | RETINAL_ARTERIAL_MACROANEURYSM_WITH_SUPRAVALVULAR_PULMONIC_STENOSIS |
| ISOVALERIC_ACIDEMIA | 1 | ISOVALERIC_ACIDEMIA |
| AUTOSOMAL-RECESSIVE_COMPLETE_CONGENITAL_STATIONARY_NIGHT_BLINDNESS | 1 | AUTOSOMAL-RECESSIVE_COMPLETE_CONGENITAL_STATIONARY_NIGHT_BLINDNESS |
| MARINESCO-SJOEGREN_SYNDROME | 1 | MARINESCO-SJOEGREN_SYNDROME |
| DEAFNESS,_AUTOSOMAL_RECESSIVE_89 | 1 | DEAFNESS,_AUTOSOMAL_RECESSIVE_89 |
| 12P12.5_INTRAGENIC_DELETIONS_ASSOCIATED_WITH_INTELLECTUAL_DISABILITY | 1 | 12P12.5_INTRAGENIC_DELETIONS_ASSOCIATED_WITH_INTELLECTUAL_DISABILITY |
| GNATHODIAPHYSEAL_DYSPLASIA | 1 | GNATHODIAPHYSEAL_DYSPLASIA |
| FOCAL_DERMAL_HYPOPLASIA | 1 | FOCAL_DERMAL_HYPOPLASIA |
| Loeys-Dietz_syndrome_2 | 1 | Loeys-Dietz_syndrome_2 |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C4 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C4 |
| CONGENITAL_HEART_DISEASE_and_NEURODEVELOPMENTAL_DISORDER | 1 | CONGENITAL_HEART_DISEASE_and_NEURODEVELOPMENTAL_DISORDER |
| BARDET-BIEDL_SYNDROME_TYPE_7 | 1 | BARDET-BIEDL_SYNDROME_TYPE_7 |
| FAMILIAL_ISOLATED_HYPOPARATHYROIDISM | 1 | FAMILIAL_ISOLATED_HYPOPARATHYROIDISM |
| ETHYLMALONIC_ENCEPHALOPATHY | 1 | ETHYLMALONIC_ENCEPHALOPATHY |
| PYCNODYSOSTOSIS | 1 | PYCNODYSOSTOSIS |
| THREE_M_SYNDROME_3 | 1 | THREE_M_SYNDROME_3 |
| ICHTHYOSIS,_LAMELLAR,_4 | 1 | ICHTHYOSIS,_LAMELLAR,_4 |
| NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1D | 1 | NIGHT_BLINDNESS,_CONGENITAL_STATIONARY,_TYPE_1D |
| MITOCHONDRIAL_COMPLEX_V_(ATP_SYNTHASE)_DEFICIENCY,_NUCLEAR_TYPE_2 | 1 | MITOCHONDRIAL_COMPLEX_V_(ATP_SYNTHASE)_DEFICIENCY,_NUCLEAR_TYPE_2 |
| ENCEPHALOPATHY_NEONATAL_SEVERE_DUE_TO_MECP2_MUTATIONS | 1 | ENCEPHALOPATHY_NEONATAL_SEVERE_DUE_TO_MECP2_MUTATIONS |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IT | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IT |
| SHORT_RIB-POLYDACTYLY_SYNDROME,_TYPE_II | 1 | SHORT_RIB-POLYDACTYLY_SYNDROME,_TYPE_II |
| KCTD7-related_progressive_myoclonic_epilepsy | 1 | KCTD7-related_progressive_myoclonic_epilepsy |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_LANGUAGE_IMPAIRMENT_AND_AUTISTIC_FEATURES | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_LANGUAGE_IMPAIRMENT_AND_AUTISTIC_FEATURES |
| CHARGE_SYNDROME | 1 | CHARGE_SYNDROME |
| FACIAL_CLEFTING,_OBLIQUE,_1 | 1 | FACIAL_CLEFTING,_OBLIQUE,_1 |
| ATAXIA-OCULOMOTOR_APRAXIA_4 | 1 | ATAXIA-OCULOMOTOR_APRAXIA_4 |
| PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_DEFECTS | 1 | PRIMARY_CILIARY_DYSKINESIA_WITH_CENTRAL-COMPLEX_DEFECTS |
| SPINOCEREBELLAR_ATAXIA_29,_CONGENITAL_NONPROGRESSIVE | 1 | SPINOCEREBELLAR_ATAXIA_29,_CONGENITAL_NONPROGRESSIVE |
| ALAZAMI_SYNDROME | 1 | ALAZAMI_SYNDROME |
| WIEDEMANN-STEINER_SYNDROME | 1 | WIEDEMANN-STEINER_SYNDROME |
| METHEMOGLOBINEMIA_DUE_TO_DEFICIENCY_OF_METHEMOGLOBIN_REDUCTASE | 1 | METHEMOGLOBINEMIA_DUE_TO_DEFICIENCY_OF_METHEMOGLOBIN_REDUCTASE |
| DIABETES_MELLITUS,_KCNJ11-RELATED_TRANSIENT_NEONATAL | 1 | DIABETES_MELLITUS,_KCNJ11-RELATED_TRANSIENT_NEONATAL |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_autosomal_recessive_34,_with_variant_lissencephaly | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_autosomal_recessive_34,_with_variant_lissencephaly |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_SIDERIUS_TYPE | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROMIC_X-LINKED_SIDERIUS_TYPE |
| CONGENITAL_CEREBELLAR_ATAXIA | 1 | CONGENITAL_CEREBELLAR_ATAXIA |
| MICROCEPHALY_PRIMARY_TYPE_7 | 1 | MICROCEPHALY_PRIMARY_TYPE_7 |
| MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME | 1 | MULTIPLE_CONGENITAL_ANOMALIES-HYPOTONIA-SEIZURES_SYNDROME |
| CENTRONUCLEAR_MYOPATHY_2 | 1 | CENTRONUCLEAR_MYOPATHY_2 |
| HYPOMYELINATION_WITH_BRAIN_STEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LEG_SPASTICITY. | 1 | HYPOMYELINATION_WITH_BRAIN_STEM_AND_SPINAL_CORD_INVOLVEMENT_AND_LEG_SPASTICITY. |
| BILATERAL_PERISYLVIAN_POLYMICROGYRIA | 1 | BILATERAL_PERISYLVIAN_POLYMICROGYRIA |
| CHOROIDEREMIA | 1 | CHOROIDEREMIA |
| HYPERTHYROIDISM,_FAMILIAL_GESTATIONAL | 1 | HYPERTHYROIDISM,_FAMILIAL_GESTATIONAL |
| HOLOPROSENCEPHALY-7 | 1 | HOLOPROSENCEPHALY-7 |
| BRACHYDACTYLY_TYPE_A2 | 1 | BRACHYDACTYLY_TYPE_A2 |
| CATARACT_21,_MULTIPLE_TYPES | 1 | CATARACT_21,_MULTIPLE_TYPES |
| METHYLMALONIC_ACIDURIA_TYPE_MUT | 1 | METHYLMALONIC_ACIDURIA_TYPE_MUT |
| RETINAL_CONE_DYSTROPHY_3_PDE6H | 1 | RETINAL_CONE_DYSTROPHY_3_PDE6H |
| NEPHRONOPHTHISIS_TYPE_11 | 1 | NEPHRONOPHTHISIS_TYPE_11 |
| AURAL_ATRESIA,_CONGENITAL | 1 | AURAL_ATRESIA,_CONGENITAL |
| HOLOPROSENCEPHALY_TYPE_3 | 1 | HOLOPROSENCEPHALY_TYPE_3 |
| XL_INTELLECTUAL_DISABILITY | 1 | XL_INTELLECTUAL_DISABILITY |
| DIABETES_MELLITUS_NEONATAL_WITH_CONGENITAL_HYPOTHYROIDISM | 1 | DIABETES_MELLITUS_NEONATAL_WITH_CONGENITAL_HYPOTHYROIDISM |
| X-LINKED_TRICHOTHIODYSTROPHY | 1 | X-LINKED_TRICHOTHIODYSTROPHY |
| AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE_BIALLELIC | 1 | AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE_BIALLELIC |
| BRUNNER_SYNDROME | 1 | BRUNNER_SYNDROME |
| CARPENTER_SYNDROME | 1 | CARPENTER_SYNDROME |
| TRICHOHEPATOENTERIC_SYNDROME_2 | 1 | TRICHOHEPATOENTERIC_SYNDROME_2 |
| BARDET-BIEDL_SYNDROME_TYPE_12 | 1 | BARDET-BIEDL_SYNDROME_TYPE_12 |
| ODAPH-related_Amyelogenesis_Imperfecta | 1 | ODAPH-related_Amyelogenesis_Imperfecta |
| RHABDOID_TUMOR_PREDISPOSITION_SYNDROME_2 | 1 | RHABDOID_TUMOR_PREDISPOSITION_SYNDROME_2 |
| OSTEOGENESIS_IMPERFECTA_TYPE_V | 1 | OSTEOGENESIS_IMPERFECTA_TYPE_V |
| NIEMANN-PICK_DISEASE,_TYPE_C2 | 1 | NIEMANN-PICK_DISEASE,_TYPE_C2 |
| SUSCEPTIBILITY_TO_AUTISM_TYPE_16 | 1 | SUSCEPTIBILITY_TO_AUTISM_TYPE_16 |
| CIC-related_neurodevelopmental_disorder | 1 | CIC-related_neurodevelopmental_disorder |
| RICHIERI-COSTA-PEREIRA_SYNDROME | 1 | RICHIERI-COSTA-PEREIRA_SYNDROME |
| EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_6 | 1 | EPILEPSY,_CHILDHOOD_ABSENCE,_SUSCEPTIBILITY_TO,_6 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_12 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_12 |
| KCNQ2-related_epileptic_encephalopathy | 1 | KCNQ2-related_epileptic_encephalopathy |
| INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND/OR_INTELLECTUAL_DISABILITY | 1 | INFANTILE_EPILEPTIC_ENCEPHALOPATHY_AND/OR_INTELLECTUAL_DISABILITY |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_EPILEPSY | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_WITH_EPILEPSY |
| AUTOSOMAL-RECESSIVE_DISORDER_WITH_CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_LOW_SERUM_COPPER_AND_CERULOPLASMIN | 1 | AUTOSOMAL-RECESSIVE_DISORDER_WITH_CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_LOW_SERUM_COPPER_AND_CERULOPLASMIN |
| AARSKOG-SCOTT_SYNDROME | 1 | AARSKOG-SCOTT_SYNDROME |
| CRANIOOSTEOARTHROPATHY | 1 | CRANIOOSTEOARTHROPATHY |
| TDRD7-related_cataract_with_or_without_azoospermia | 1 | TDRD7-related_cataract_with_or_without_azoospermia |
| CLEIDOCRANIAL_DYSPLASIA_WITH_MICROGNATHIA,_ABSENT_THUMBS,_AND_DISTAL_APHALANGIA_YUNIS-VARON_SYNDROME | 1 | CLEIDOCRANIAL_DYSPLASIA_WITH_MICROGNATHIA,_ABSENT_THUMBS,_AND_DISTAL_APHALANGIA_YUNIS-VARON_SYNDROME |
| EPILEPSY,_GENERALIZED,_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_3 | 1 | EPILEPSY,_GENERALIZED,_WITH_FEBRILE_SEIZURES_PLUS,_TYPE_3 |
| KLIPPEL-FEIL_ANOMALY | 1 | KLIPPEL-FEIL_ANOMALY |
| CHOREOATHETOSIS,_HYPOTHYROIDISM,_AND_NEONATAL_RESPIRATORY_DISTRESS | 1 | CHOREOATHETOSIS,_HYPOTHYROIDISM,_AND_NEONATAL_RESPIRATORY_DISTRESS |
| CRANIOSYNOSTOSIS_AND_DENTAL_ANOMALIES | 1 | CRANIOSYNOSTOSIS_AND_DENTAL_ANOMALIES |
| NEPHRONOPHTHISIS-LIKE_NEPHROPATHY_TYPE_1 | 1 | NEPHRONOPHTHISIS-LIKE_NEPHROPATHY_TYPE_1 |
| 3-M_SYNDROME_1 | 1 | 3-M_SYNDROME_1 |
| BRUGADA_SYNDROME_5 | 1 | BRUGADA_SYNDROME_5 |
| WARBURG_MICRO_SYNDROME_TYPE_1 | 1 | WARBURG_MICRO_SYNDROME_TYPE_1 |
| MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_1 | 1 | MULTIPLE_EPIPHYSEAL_DYSPLASIA_TYPE_1 |
| SENIOR-LOKEN_SYNDROME_7 | 1 | SENIOR-LOKEN_SYNDROME_7 |
| NEPHRONOPHTHISIS_TYPE_3 | 1 | NEPHRONOPHTHISIS_TYPE_3 |
| MARSHALL-SMITH_SYNDROME | 1 | MARSHALL-SMITH_SYNDROME |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_AGGRECAN_TYPE | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_AGGRECAN_TYPE |
| RENPENNING_SYNDROME_1 | 1 | RENPENNING_SYNDROME_1 |
| MICROCEPHALY_PRIMARY_TYPE_1 | 1 | MICROCEPHALY_PRIMARY_TYPE_1 |
| NEXMIF-related_Intellectual_disability_and_epilepsy_(XLR) | 1 | NEXMIF-related_Intellectual_disability_and_epilepsy_(XLR) |
| PRIMARY_CILIARY_DYSKINESIA_ASSOCIATED_WITH_DEFECTIVE_OUTER_AND_INNER_DYNEIN_ARMS. | 1 | PRIMARY_CILIARY_DYSKINESIA_ASSOCIATED_WITH_DEFECTIVE_OUTER_AND_INNER_DYNEIN_ARMS. |
| ARTHROGRYPOSIS,_LETHAL,_WITH_ANTERIOR_HORN_CELL_DISEASE | 1 | ARTHROGRYPOSIS,_LETHAL,_WITH_ANTERIOR_HORN_CELL_DISEASE |
| CILIARY_DYSKINESIA,_PRIMARY,_14 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_14 |
| MACROTHROMBOCYTOPENIA_AND_GRANULOCYTE_INCLUSIONS_WITH_OR_WITHOUT_NEPHRITIS_OR_SENSORINEURAL_HEARING_LOSS | 1 | MACROTHROMBOCYTOPENIA_AND_GRANULOCYTE_INCLUSIONS_WITH_OR_WITHOUT_NEPHRITIS_OR_SENSORINEURAL_HEARING_LOSS |
| OMODYSPLASIA_TYPE_1_(OMOD1) | 1 | OMODYSPLASIA_TYPE_1_(OMOD1) |
| KERATOSIS_LINEARIS_WITH_ICHTHYOSIS_CONGENITA_AND_SCLEROSING_KERATODERMA | 1 | KERATOSIS_LINEARIS_WITH_ICHTHYOSIS_CONGENITA_AND_SCLEROSING_KERATODERMA |
| WEAVER_SYNDROME_2 | 1 | WEAVER_SYNDROME_2 |
| CHONDRODYSPLASIA_BLOMSTRAND_TYPE | 1 | CHONDRODYSPLASIA_BLOMSTRAND_TYPE |
| MITOCHONDRIAL_DNA_DEPLETION_SYNDROME,_MYOPATHIC_FORM | 1 | MITOCHONDRIAL_DNA_DEPLETION_SYNDROME,_MYOPATHIC_FORM |
| GLUTARIC_ACIDURIA_TYPE_2B | 1 | GLUTARIC_ACIDURIA_TYPE_2B |
| PLXND1-related_cardiac_malformation_syndrome | 1 | PLXND1-related_cardiac_malformation_syndrome |
| NORTH_AMERICAN_INDIAN_CHILDHOOD_CIRRHOSIS | 1 | NORTH_AMERICAN_INDIAN_CHILDHOOD_CIRRHOSIS |
| BURN_MCKEOWN_SYNDROME | 1 | BURN_MCKEOWN_SYNDROME |
| SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA | 1 | SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA |
| IFIH1-related_Singleton-Merten_syndrome | 1 | IFIH1-related_Singleton-Merten_syndrome |
| RENAL_HYPODYSPLASIA/APLASIA_1 | 1 | RENAL_HYPODYSPLASIA/APLASIA_1 |
| MEIER-GORLIN_SYNDROME_3 | 1 | MEIER-GORLIN_SYNDROME_3 |
| POU1F1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY | 1 | POU1F1-RELATED_COMBINED_PITUITARY_HORMONE_DEFICIENCY |
| INTELLECTUAL_DISABILTIY | 1 | INTELLECTUAL_DISABILTIY |
| STICKLER_SYNDROME,_TYPE_II | 1 | STICKLER_SYNDROME,_TYPE_II |
| CEREBROOCULOFACIOSKELETAL_SYNDROME_4 | 1 | CEREBROOCULOFACIOSKELETAL_SYNDROME_4 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_3 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_AUTOSOMAL_RECESSIVE_TYPE_3 |
| OROFACIODIGITAL_SYNDROME | 1 | OROFACIODIGITAL_SYNDROME |
| MICROPHTHALMIA_WITH_LINEAR_SKIN_DEFECTS_SYNDROME | 1 | MICROPHTHALMIA_WITH_LINEAR_SKIN_DEFECTS_SYNDROME |
| GM2-GANGLIOSIDOSIS_TYPE_AB | 1 | GM2-GANGLIOSIDOSIS_TYPE_AB |
| MUCOLIPIDOSIS_IV | 1 | MUCOLIPIDOSIS_IV |
| COMPLEX_CRANIOSYNOSTOSIS | 1 | COMPLEX_CRANIOSYNOSTOSIS |
| MANDIBULOFACIAL_DYSOSTOSIS_WITH_ALOPECIA | 1 | MANDIBULOFACIAL_DYSOSTOSIS_WITH_ALOPECIA |
| DYGGVE-MELCHIOR-CLAUSEN_SYNDROME/SMITH-MCCORT_DYSPLASIA | 1 | DYGGVE-MELCHIOR-CLAUSEN_SYNDROME/SMITH-MCCORT_DYSPLASIA |
| BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_2 | 1 | BILE_ACID_SYNTHESIS_DEFECT,_CONGENITAL,_2 |
| ACUTE_NECROTIZING_ENCEPHALOPATHY_1,_SUSCEPTIBILITY_TO | 1 | ACUTE_NECROTIZING_ENCEPHALOPATHY_1,_SUSCEPTIBILITY_TO |
| 8Q24.3_DELETION-LIKE | 1 | 8Q24.3_DELETION-LIKE |
| HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_4 | 1 | HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_4 |
| NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IC | 1 | NEUROPATHY,_HEREDITARY_SENSORY_AND_AUTONOMIC,_TYPE_IC |
| VERY_LONG_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY | 1 | VERY_LONG_CHAIN_ACYL-COENZYME_A_DEHYDROGENASE_DEFICIENCY |
| LIMB-MAMMARY_SYNDROME | 1 | LIMB-MAMMARY_SYNDROME |
| BARTTER_SYNDROME_TYPE_4A | 1 | BARTTER_SYNDROME_TYPE_4A |
| EHMT1-like_SYNDROME | 1 | EHMT1-like_SYNDROME |
| CAMPOMELIC_DYSPLASIA | 1 | CAMPOMELIC_DYSPLASIA |
| DOORS_SYNDROME | 1 | DOORS_SYNDROME |
| SEVERE_ASPHYXIATING_THORACIC_DYSPLASIA | 1 | SEVERE_ASPHYXIATING_THORACIC_DYSPLASIA |
| ASPERGER | 1 | ASPERGER |
| IMMUNODEFICIENCY_23 | 1 | IMMUNODEFICIENCY_23 |
| FATAL_INFANTILE_LACTIC_ACIDOSIS | 1 | FATAL_INFANTILE_LACTIC_ACIDOSIS |
| LRP5_-_OSTEOPOROSIS-PSEUDOGLIOMA_SYNDROME_on_a_spectrum_with_FEVR_with_osteopenia | 1 | LRP5_-_OSTEOPOROSIS-PSEUDOGLIOMA_SYNDROME_on_a_spectrum_with_FEVR_with_osteopenia |
| ANIRIDIA | 1 | ANIRIDIA |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_30 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_30 |
| SLC31A1-associated_congenital_copper_transport_disorder | 1 | SLC31A1-associated_congenital_copper_transport_disorder |
| FANCI-related_Fanconi_anemia | 1 | FANCI-related_Fanconi_anemia |
| UNVERRICHT-LUNDBORG_DISEASE | 1 | UNVERRICHT-LUNDBORG_DISEASE |
| DENTINOGENESIS_IMPERFECTA,_SHIELDS_TYPE_II | 1 | DENTINOGENESIS_IMPERFECTA,_SHIELDS_TYPE_II |
| DOPA-RESPONSIVE_DYSTONIA | 1 | DOPA-RESPONSIVE_DYSTONIA |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_95 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_X-LINKED_TYPE_95 |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C3 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_LIMB-GIRDLE_TYPE_C3 |
| PRIMARY_CILARY_DYSKINESIA | 1 | PRIMARY_CILARY_DYSKINESIA |
| NIJMEGEN_BREAKAGE_SYNDROME-LIKE_DISORDER | 1 | NIJMEGEN_BREAKAGE_SYNDROME-LIKE_DISORDER |
| AICARDI-GOUTIERES_SYNDROME_3 | 1 | AICARDI-GOUTIERES_SYNDROME_3 |
| MULLERIAN_APLASIA_AND_HYPERANDROGENISM | 1 | MULLERIAN_APLASIA_AND_HYPERANDROGENISM |
| CILIARY_DYSKINESIA,_PRIMARY,_15 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_15 |
| FAMILIAL_DIARRHEA_DIARRHEA_6 | 1 | FAMILIAL_DIARRHEA_DIARRHEA_6 |
| POSTNATAL_MICROCEPHALY,_HYPOMYELINATION,_AND_REDUCED_CEREBRAL_WHITE-MATTER_VOLUME | 1 | POSTNATAL_MICROCEPHALY,_HYPOMYELINATION,_AND_REDUCED_CEREBRAL_WHITE-MATTER_VOLUME |
| FANCONI_ANEMIA | 1 | FANCONI_ANEMIA |
| SHWACHMAN-DIAMOND_SYNDROME | 1 | SHWACHMAN-DIAMOND_SYNDROME |
| BILATERAL_DIFFUSE_POLYMICROGYRIA | 1 | BILATERAL_DIFFUSE_POLYMICROGYRIA |
| INSULIN-LIKE_GROWTH_FACTOR_I_DEFICIENCY | 1 | INSULIN-LIKE_GROWTH_FACTOR_I_DEFICIENCY |
| METATROPIC_DYSPLASIA | 1 | METATROPIC_DYSPLASIA |
| ID,_MACROCEPHALY_AND_CEREBELLAR_HYPOPLASIA | 1 | ID,_MACROCEPHALY_AND_CEREBELLAR_HYPOPLASIA |
| FAMILIAL_INFANTILE_MYOFIBROMATOSIS | 1 | FAMILIAL_INFANTILE_MYOFIBROMATOSIS |
| PROGEROID_SYNDROME | 1 | PROGEROID_SYNDROME |
| DUANE-RADIAL_RAY_SYNDROME | 1 | DUANE-RADIAL_RAY_SYNDROME |
| ARGININE:GLYCINE_AMIDINOTRANSFERASE_DEFICIENCY | 1 | ARGININE:GLYCINE_AMIDINOTRANSFERASE_DEFICIENCY |
| XIA-GIBBS_SYNDROME | 1 | XIA-GIBBS_SYNDROME |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IR | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IR |
| Generalized_Arterial_Calcification_of_Infancy_and_Hypophosphataemic_Rickets | 1 | Generalized_Arterial_Calcification_of_Infancy_and_Hypophosphataemic_Rickets |
| WARBURG_MICRO_SYNDROME_TYPE_3 | 1 | WARBURG_MICRO_SYNDROME_TYPE_3 |
| ATYPICAL_DOMINANT_FANCONI_SYNDROME_WITH_MODY | 1 | ATYPICAL_DOMINANT_FANCONI_SYNDROME_WITH_MODY |
| MULTIPLE_PTERYGIUM_SYNDROME_LETHAL_TYPE | 1 | MULTIPLE_PTERYGIUM_SYNDROME_LETHAL_TYPE |
| MICROPHTHALMIA_ISOLATED_TYPE_5 | 1 | MICROPHTHALMIA_ISOLATED_TYPE_5 |
| CHONDROCALCINOSIS_2 | 1 | CHONDROCALCINOSIS_2 |
| EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_2 | 1 | EPILEPTIC_ENCEPHALOPATHY_EARLY_INFANTILE_TYPE_2 |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_26 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_26 |
| ATYPICAL_KRABBE_DISEASE | 1 | ATYPICAL_KRABBE_DISEASE |
| GMPPA-related_alacrima,_achalasia_and_intellectual_disability | 1 | GMPPA-related_alacrima,_achalasia_and_intellectual_disability |
| TPP1-related_neuronal_ceroid_lipofuscinosis | 1 | TPP1-related_neuronal_ceroid_lipofuscinosis |
| ARTHROGRYPOSIS,_DISTAL,_TYPE_3 | 1 | ARTHROGRYPOSIS,_DISTAL,_TYPE_3 |
| PRIMROSE_SYNDROME | 1 | PRIMROSE_SYNDROME |
| MRX_WITH/WITHOUT_NYSTAGMUS | 1 | MRX_WITH/WITHOUT_NYSTAGMUS |
| POLYMICROGYRIA_AND_CORPUS_CALLOSUM_AGENESIS | 1 | POLYMICROGYRIA_AND_CORPUS_CALLOSUM_AGENESIS |
| ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_2 | 1 | ARTHROGRYPOSIS,_RENAL_DYSFUNCTION,_AND_CHOLESTASIS_2 |
| WOLFRAM_SYNDROME_TYPE_2 | 1 | WOLFRAM_SYNDROME_TYPE_2 |
| EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_13 | 1 | EPILEPTIC_ENCEPHALOPATHY,_EARLY_INFANTILE,_13 |
| WARSAW_BREAKAGE_SYNDROME | 1 | WARSAW_BREAKAGE_SYNDROME |
| GENITOPATELLAR_SYNDROME | 1 | GENITOPATELLAR_SYNDROME |
| ACROFACIAL_DYSOSTOSIS,_CINCINNATI_TYPE | 1 | ACROFACIAL_DYSOSTOSIS,_CINCINNATI_TYPE |
| MUCOPOLYSACCHARIDOSIS_TYPE_4A | 1 | MUCOPOLYSACCHARIDOSIS_TYPE_4A |
| COBALAMIN_DISORDER | 1 | COBALAMIN_DISORDER |
| COG8-CDG | 1 | COG8-CDG |
| CATARACT,_CONGENITAL,_CERULEAN_TYPE,_2 | 1 | CATARACT,_CONGENITAL,_CERULEAN_TYPE,_2 |
| EHLERS-DANLOS_SYNDROME,_KYPHOSCOLIOTIC_FORM | 1 | EHLERS-DANLOS_SYNDROME,_KYPHOSCOLIOTIC_FORM |
| MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRB-RELATED | 1 | MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_III_DEFICIENCY,_UQCRB-RELATED |
| DUCHENNE_MUSCULAR_DYSTROPHY | 1 | DUCHENNE_MUSCULAR_DYSTROPHY |
| CILIARY_DYSKINESIA,_PRIMARY,_5 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_5 |
| MOHR-MAJEWSKI_SYNDROME | 1 | MOHR-MAJEWSKI_SYNDROME |
| SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY,_TYPE_2 | 1 | SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY,_TYPE_2 |
| NEPHRONOPHTHISIS_7 | 1 | NEPHRONOPHTHISIS_7 |
| BOHRING-OPITZ_SYNDROME | 1 | BOHRING-OPITZ_SYNDROME |
| SEVERE_ID_WITH_NEURONAL_MIGRATION_DISORDER | 1 | SEVERE_ID_WITH_NEURONAL_MIGRATION_DISORDER |
| LISSENCEPHALY_X-LINKED_TYPE_1 | 1 | LISSENCEPHALY_X-LINKED_TYPE_1 |
| NOONAN-LIKE_SYNDROME_WITH_LOOSE_ANAGEN_HAIR | 1 | NOONAN-LIKE_SYNDROME_WITH_LOOSE_ANAGEN_HAIR |
| EHLERS-DANLOS_SYNDROME-LIKE_SPONDYLOCHEIRODYSPLASIA | 1 | EHLERS-DANLOS_SYNDROME-LIKE_SPONDYLOCHEIRODYSPLASIA |
| WOLCOTT-RALLISON_SYNDROME | 1 | WOLCOTT-RALLISON_SYNDROME |
| CEROID_LIPOFUSCINOSIS,_NEURONAL,_KUFS_TYPE,_ADULT_ONSET | 1 | CEROID_LIPOFUSCINOSIS,_NEURONAL,_KUFS_TYPE,_ADULT_ONSET |
| COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_6 | 1 | COMBINED_OXIDATIVE_PHOSPHORYLATION_DEFICIENCY_6 |
| NEU-LAXOVA_SYNDROME | 1 | NEU-LAXOVA_SYNDROME |
| Poikiloderma_with_neutropenia | 1 | Poikiloderma_with_neutropenia |
| Viral_induced_severe_multiorgan_dysfunction_associated_with_impaired_mitochondrial_fission | 1 | Viral_induced_severe_multiorgan_dysfunction_associated_with_impaired_mitochondrial_fission |
| MACROCEPHALY,_ALOPECIA,_CUTIS_LAXA,_AND_SCOLIOSIS_TALL_FOREHEAD,_SPARSE_HAIR,_SKIN_HYPEREXTENSIBILITY,_AND_SCOLIOSIS | 1 | MACROCEPHALY,_ALOPECIA,_CUTIS_LAXA,_AND_SCOLIOSIS_TALL_FOREHEAD,_SPARSE_HAIR,_SKIN_HYPEREXTENSIBILITY,_AND_SCOLIOSIS |
| HACE1_related_disorder | 1 | HACE1_related_disorder |
| MMP21-associated_heterotaxy | 1 | MMP21-associated_heterotaxy |
| Pseudohypoparathyroidism-like_disorder | 1 | Pseudohypoparathyroidism-like_disorder |
| Focal_epilepsy | 1 | Focal_epilepsy |
| Episodes_of_Liver_Failure,_Peripheral_Neuropathy,_Cerebellar_Atrophy,_and_Ataxia | 1 | Episodes_of_Liver_Failure,_Peripheral_Neuropathy,_Cerebellar_Atrophy,_and_Ataxia |
| Congenital_Myasthenic_Syndrome_Type_19 | 1 | Congenital_Myasthenic_Syndrome_Type_19 |
| Intellectual_Disability_with_Cerebellar_Atrophy | 1 | Intellectual_Disability_with_Cerebellar_Atrophy |
| Autosomal-Dominant_Primordial_Dwarfism_Associated_with_Meier-Gorlin_Syndrome | 1 | Autosomal-Dominant_Primordial_Dwarfism_Associated_with_Meier-Gorlin_Syndrome |
| Dysmorphic_Features,_Intellectual_Disability,_and_Neurological_Manifestations | 1 | Dysmorphic_Features,_Intellectual_Disability,_and_Neurological_Manifestations |
| TERT-related_Dyskeratosis_congenita | 1 | TERT-related_Dyskeratosis_congenita |
| EXUDATIVE_RETINOPATHY_WITH_BONE_MARROW_FAILURE | 1 | EXUDATIVE_RETINOPATHY_WITH_BONE_MARROW_FAILURE |
| ARTHROGRYPOSIS,_DISTAL,_TYPE_1 | 1 | ARTHROGRYPOSIS,_DISTAL,_TYPE_1 |
| Transcobalamin_II_deficiency | 1 | Transcobalamin_II_deficiency |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-linked,_syndromic_32 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-linked,_syndromic_32 |
| ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1 | 1 | ULLRICH_CONGENITAL_MUSCULAR_DYSTROPHY_1 |
| LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_9 | 1 | LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_9 |
| SPONDYLOOCULAR_SYNDROME | 1 | SPONDYLOOCULAR_SYNDROME |
| OSTEOGENESIS_IMPERFECTA,_TYPE_XVII | 1 | OSTEOGENESIS_IMPERFECTA,_TYPE_XVII |
| FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_T | 1 | FANCONI_ANEMIA,_COMPLEMENTATION_GROUP_T |
| CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT_2 | 1 | CONGENITAL_ANOMALIES_OF_KIDNEY_AND_URINARY_TRACT_2 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_12 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_12 |
| CRANIOSYNOSTOSIS_6 | 1 | CRANIOSYNOSTOSIS_6 |
| EPILEPSY,_HEARING_LOSS,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME | 1 | EPILEPSY,_HEARING_LOSS,_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME |
| PREMATURE_AGING_SYNDROME,_PENTTINEN_TYPE | 1 | PREMATURE_AGING_SYNDROME,_PENTTINEN_TYPE |
| ADAMS-OLIVER_SYNDROME_6 | 1 | ADAMS-OLIVER_SYNDROME_6 |
| CUTIS_LAXA,_AUTOSOMAL_DOMINANT_3 | 1 | CUTIS_LAXA,_AUTOSOMAL_DOMINANT_3 |
| COMPLEX_LETHAL_OSTEOCHONDRODYSPLASIA | 1 | COMPLEX_LETHAL_OSTEOCHONDRODYSPLASIA |
| PROGRESSIVE_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA | 1 | PROGRESSIVE_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA |
| INTRA-MITOCHONDRIAL_METHYLATION_DEFICIENCY | 1 | INTRA-MITOCHONDRIAL_METHYLATION_DEFICIENCY |
| EARLY-ONSET_RECESSIVE_OPTIC_NEUROPATHY | 1 | EARLY-ONSET_RECESSIVE_OPTIC_NEUROPATHY |
| WAARDENBURG_SYNDROME_TYPE_2 | 1 | WAARDENBURG_SYNDROME_TYPE_2 |
| MICROCEPHALY_15,_PRIMARY,_AUTOSOMAL_RECESSIVE | 1 | MICROCEPHALY_15,_PRIMARY,_AUTOSOMAL_RECESSIVE |
| HEREDITARY_SENSORY_&_AUTONOMIC_NEUROPATHY_TYPE_VIII | 1 | HEREDITARY_SENSORY_&_AUTONOMIC_NEUROPATHY_TYPE_VIII |
| CRIPT-related_short_stature,_microcephaly,_poikiloderma_and_skeletal_abnormalities_(Rothmund_Thomson_like) | 1 | CRIPT-related_short_stature,_microcephaly,_poikiloderma_and_skeletal_abnormalities_(Rothmund_Thomson_like) |
| D-2-HYDROXYGLUTARIC_ACIDURIA_1 | 1 | D-2-HYDROXYGLUTARIC_ACIDURIA_1 |
| LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_7 | 1 | LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_7 |
| EHLERS-DANLOS_SYNDROME,_MUSCULOCONTRACTURAL_TYPE_2 | 1 | EHLERS-DANLOS_SYNDROME,_MUSCULOCONTRACTURAL_TYPE_2 |
| CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_2 | 1 | CEREBELLAR_ATAXIA,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AND_DYSEQUILIBRIUM_SYNDROME_2 |
| HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE | 1 | HYDROCEPHALUS,_NONSYNDROMIC,_AUTOSOMAL_RECESSIVE |
| LEIGH_SYNDROME_DUP | 1 | LEIGH_SYNDROME_DUP |
| HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_5 | 1 | HYPERPHOSPHATASIA_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_SYNDROME_5 |
| SPONDYLOMETAPHYSEAL_DYSPLASIA,_SEDAGHATIAN_TYPE | 1 | SPONDYLOMETAPHYSEAL_DYSPLASIA,_SEDAGHATIAN_TYPE |
| CNOT3_syndrome | 1 | CNOT3_syndrome |
| CSNK2A1_syndrome | 1 | CSNK2A1_syndrome |
| GNAI1_syndrome | 1 | GNAI1_syndrome |
| KCNQ3_syndrome | 1 | KCNQ3_syndrome |
| Autism | 1 | Autism |
| MSL3_syndrome | 1 | MSL3_syndrome |
| MYT1L_syndrome | 1 | MYT1L_syndrome |
| PPM1D_syndrome | 1 | PPM1D_syndrome |
| PUF60_syndrome | 1 | PUF60_syndrome |
| QRICH1_syndrome | 1 | QRICH1_syndrome |
| SET_syndrome | 1 | SET_syndrome |
| KMT5B_syndrome | 1 | KMT5B_syndrome |
| TCF20_syndrome | 1 | TCF20_syndrome |
| ZBTB18_syndrome | 1 | ZBTB18_syndrome |
| Desanto-Shinawi_syndrome | 1 | Desanto-Shinawi_syndrome |
| Persistent_Hypotonia,_Encephalopathy,_Growth_Retardation,_and_Severe_Intellectual_Disability | 1 | Persistent_Hypotonia,_Encephalopathy,_Growth_Retardation,_and_Severe_Intellectual_Disability |
| Disorder_of_Golgi_homeostasis | 1 | Disorder_of_Golgi_homeostasis |
| Infancy-Onset_Recurrent_Metabolic_Crises_with_Encephalocardiomyopathy | 1 | Infancy-Onset_Recurrent_Metabolic_Crises_with_Encephalocardiomyopathy |
| EMC1-related_global_developmental_delay,_hypotonia,_scoliosis,_and_cerebellar_atrophy | 1 | EMC1-related_global_developmental_delay,_hypotonia,_scoliosis,_and_cerebellar_atrophy |
| Encephalocraniocutaneous_lipomatosis | 1 | Encephalocraniocutaneous_lipomatosis |
| Intellectual_Disability_with_Seizures_and_Hypotonia | 1 | Intellectual_Disability_with_Seizures_and_Hypotonia |
| DNA_Repair-Proficient_Trichothiodystrophy | 1 | DNA_Repair-Proficient_Trichothiodystrophy |
| SMG9_Multiple_Congenital_Anomaly_Syndrome | 1 | SMG9_Multiple_Congenital_Anomaly_Syndrome |
| Childhood-Onset_Chorea_with_Bilateral_Striatal_Lesions | 1 | Childhood-Onset_Chorea_with_Bilateral_Striatal_Lesions |
| Severe_Infantile_Syndromic_Encephalopathy | 1 | Severe_Infantile_Syndromic_Encephalopathy |
| TELO2_Syndromic_Intellectual_Disability_Disorder | 1 | TELO2_Syndromic_Intellectual_Disability_Disorder |
| Phenocopy_of_Proximal_1p36_Deletions | 1 | Phenocopy_of_Proximal_1p36_Deletions |
| Gillespie_Syndrome,_monoallelic | 1 | Gillespie_Syndrome,_monoallelic |
| Mitochondrial_RNA_Processing_and_Multiple_Respiratory_Chain_Deficiencies | 1 | Mitochondrial_RNA_Processing_and_Multiple_Respiratory_Chain_Deficiencies |
| Severe_Neurodevelopmental_Disability,_Hypotonia,_and_Seizures | 1 | Severe_Neurodevelopmental_Disability,_Hypotonia,_and_Seizures |
| GNB3_Autosomal-Recessive_Congenital_Stationary_Night_Blindness. | 1 | GNB3_Autosomal-Recessive_Congenital_Stationary_Night_Blindness. |
| Isolated_Nonsyndromic_Patent_Ductus_Arteriosus. | 1 | Isolated_Nonsyndromic_Patent_Ductus_Arteriosus. |
| Riboflavin-Responsive_and_Non-responsive_Multiple_Acyl-CoA_Dehydrogenase_and_Combined_Respiratory-Chain_Deficiency. | 1 | Riboflavin-Responsive_and_Non-responsive_Multiple_Acyl-CoA_Dehydrogenase_and_Combined_Respiratory-Chain_Deficiency. |
| Ataxia-Pancytopenia_Syndrome | 1 | Ataxia-Pancytopenia_Syndrome |
| Duane_Syndrome,_Aberrant_Extraocular_Muscle_Innervation,_and_Inner-Ear_Defects | 1 | Duane_Syndrome,_Aberrant_Extraocular_Muscle_Innervation,_and_Inner-Ear_Defects |
| Short_Stature,_Developmental_Delay,_and_Congenital_Heart_Defects | 1 | Short_Stature,_Developmental_Delay,_and_Congenital_Heart_Defects |
| X-Linked_Spondyloepimetaphyseal_Dysplasia | 1 | X-Linked_Spondyloepimetaphyseal_Dysplasia |
| Epileptic_encephalopathy_with_continuous_spike-and-wave_during_sleep | 1 | Epileptic_encephalopathy_with_continuous_spike-and-wave_during_sleep |
| Curry-Jones_Syndrome | 1 | Curry-Jones_Syndrome |
| Combined_immunodeficiency | 1 | Combined_immunodeficiency |
| Autosomal_Dominant_Coloboma | 1 | Autosomal_Dominant_Coloboma |
| COL6A1_associated_myopathy | 1 | COL6A1_associated_myopathy |
| Meier-Gorlin_Syndrome_and_Craniosynostosis | 1 | Meier-Gorlin_Syndrome_and_Craniosynostosis |
| Autosomal-Dominant_Tubulo-Interstitial_and_Glomerulocystic_Kidney_Disease_with_Anemia | 1 | Autosomal-Dominant_Tubulo-Interstitial_and_Glomerulocystic_Kidney_Disease_with_Anemia |
| Progressive_neurological_disorder_and_regression_of_developmental_milestones | 1 | Progressive_neurological_disorder_and_regression_of_developmental_milestones |
| Muscle_Weakness_and_Isolated_Complex_I_Deficiency | 1 | Muscle_Weakness_and_Isolated_Complex_I_Deficiency |
| Pontocerebellar_Hypoplasia_and_Progressive_Microcephaly | 1 | Pontocerebellar_Hypoplasia_and_Progressive_Microcephaly |
| Coats_Plus | 1 | Coats_Plus |
| CCDC88A-related_PEHO-like_syndrome_with_neuronal_migration_disorder,_seizures_and_microcephaly | 1 | CCDC88A-related_PEHO-like_syndrome_with_neuronal_migration_disorder,_seizures_and_microcephaly |
| Rasopathy_with_developmental_delay,_short_stature_and_sparse_slow-growing_hair | 1 | Rasopathy_with_developmental_delay,_short_stature_and_sparse_slow-growing_hair |
| ATAD3A_disorder_-_global_developmental_delay,_hypotonia,_optic_atrophy,_axonal_neuropathy,_and_hypertrophic_cardiomyopathy | 1 | ATAD3A_disorder_-_global_developmental_delay,_hypotonia,_optic_atrophy,_axonal_neuropathy,_and_hypertrophic_cardiomyopathy |
| Geroderma_osteodysplasticum | 1 | Geroderma_osteodysplasticum |
| Hereditary_1,25-dihydroxyvitamin_D-resistant_rickets | 1 | Hereditary_1,25-dihydroxyvitamin_D-resistant_rickets |
| Severe_Infantile-Onset_Encephalopathy | 1 | Severe_Infantile-Onset_Encephalopathy |
| Cousin_Syndrome;_Craniofacial_Dysmorphism,_Hypoplasia_of_Scapula_and_Pelvis,_and_Short_Stature | 1 | Cousin_Syndrome;_Craniofacial_Dysmorphism,_Hypoplasia_of_Scapula_and_Pelvis,_and_Short_Stature |
| Cherubism | 1 | Cherubism |
| Syndromic_congenital_heart_defects | 1 | Syndromic_congenital_heart_defects |
| Gomez-Lopez-Fernandes_syndrome | 1 | Gomez-Lopez-Fernandes_syndrome |
| TLK2_syndrome | 1 | TLK2_syndrome |
| Sudden_arrhythmic_cardiac_death_after_infectious_or_alcohol_trigger | 1 | Sudden_arrhythmic_cardiac_death_after_infectious_or_alcohol_trigger |
| X-linked_anophthalmia_syndrome | 1 | X-linked_anophthalmia_syndrome |
| Isolated_Arhinia/Bosma_Arhinia_syndrome | 1 | Isolated_Arhinia/Bosma_Arhinia_syndrome |
| OAVS/Goldenhar_syndrome | 1 | OAVS/Goldenhar_syndrome |
| Laterality_defects | 1 | Laterality_defects |
| Autosomal_Recessive_Craniosynostosis | 1 | Autosomal_Recessive_Craniosynostosis |
| Syndromic_ID_with_severe_microcephaly | 1 | Syndromic_ID_with_severe_microcephaly |
| Severe_microcephaly,_short_stature_and_intellectual_disability | 1 | Severe_microcephaly,_short_stature_and_intellectual_disability |
| microcephaly | 1 | microcephaly |
| Microcephalic_dwarfism | 1 | Microcephalic_dwarfism |
| Early-onset_mitochondrial_syndrome_associated_with_3-methylglutaconic_aciduria | 1 | Early-onset_mitochondrial_syndrome_associated_with_3-methylglutaconic_aciduria |
| Congenital_lymphatic_dysplasia_with_hydrops_and/or_lymphoedema | 1 | Congenital_lymphatic_dysplasia_with_hydrops_and/or_lymphoedema |
| Leukoencephalopathy_with_cerebral_calcification_&_cysts | 1 | Leukoencephalopathy_with_cerebral_calcification_&_cysts |
| Otulin-related_auto_inflammatory_syndrome | 1 | Otulin-related_auto_inflammatory_syndrome |
| Severe_pseudo-TORCH_syndrome | 1 | Severe_pseudo-TORCH_syndrome |
| Severe_syndromic_form_of_thoracic_aortic_aneurysm_&_dissection | 1 | Severe_syndromic_form_of_thoracic_aortic_aneurysm_&_dissection |
| infantile-onset_severe_developmental_delay_and_skeletal_dysplasia | 1 | infantile-onset_severe_developmental_delay_and_skeletal_dysplasia |
| tRNA_isopentenyltransferase_deficiency | 1 | tRNA_isopentenyltransferase_deficiency |
| Ataxia,_dysmetria,_contractures_&_scoliosis_with_normal_cognition_but_loss_of_discriminative_touch_perception | 1 | Ataxia,_dysmetria,_contractures_&_scoliosis_with_normal_cognition_but_loss_of_discriminative_touch_perception |
| BRPF1_associated_syndromic_intellectual_disability_with_ptosis | 1 | BRPF1_associated_syndromic_intellectual_disability_with_ptosis |
| HIVEP2_associated_syndromic_developmental_delay_with_intellectual_disability | 1 | HIVEP2_associated_syndromic_developmental_delay_with_intellectual_disability |
| Colobomatous_macrophthalmia_with_microcornea_syndrome | 1 | Colobomatous_macrophthalmia_with_microcornea_syndrome |
| Colobomatous_microphthalmia,_microcephaly,_intellectual_disability,_and_short_stature | 1 | Colobomatous_microphthalmia,_microcephaly,_intellectual_disability,_and_short_stature |
| Complex_early-onset_dystonia | 1 | Complex_early-onset_dystonia |
| STAG1_syndromic_intellectual_disability | 1 | STAG1_syndromic_intellectual_disability |
| Intraosseous_Vascular_Malformation | 1 | Intraosseous_Vascular_Malformation |
| Growth_Retardation_with_Prenatal_Onset,_Intellectual_Disability,_Muscular_Hypotonia,_and_Infantile_Hepatopathy | 1 | Growth_Retardation_with_Prenatal_Onset,_Intellectual_Disability,_Muscular_Hypotonia,_and_Infantile_Hepatopathy |
| Congenital_vascular_tumours | 1 | Congenital_vascular_tumours |
| Primary_Ciliary_Dyskinesia_with_Left-Right_Body_Asymmetry_Randomization | 1 | Primary_Ciliary_Dyskinesia_with_Left-Right_Body_Asymmetry_Randomization |
| Primary_Ciliary_Dyskinesia_and_Male_Infertility | 1 | Primary_Ciliary_Dyskinesia_and_Male_Infertility |
| Sinus_Bradycardia_and_Cognitive_Disability | 1 | Sinus_Bradycardia_and_Cognitive_Disability |
| Intellectual_Disability,_Congenital_Malformations,_and_Failure_to_Thrive | 1 | Intellectual_Disability,_Congenital_Malformations,_and_Failure_to_Thrive |
| Neurodevelopmental_Disorder_in_Females | 1 | Neurodevelopmental_Disorder_in_Females |
| Congenital_Myasthenic_Syndrome_with_Episodic_Apnea | 1 | Congenital_Myasthenic_Syndrome_with_Episodic_Apnea |
| Bowen-Conradi_syndrome | 1 | Bowen-Conradi_syndrome |
| Severe_Epileptic_Encephalopathy_Treatable_with_NMDA_Receptor_Channel_Blockers | 1 | Severe_Epileptic_Encephalopathy_Treatable_with_NMDA_Receptor_Channel_Blockers |
| Severe_Early-Onset_Mitochondrial_Disease_and_Loss_of_Mitochondrial_DNA_Copy_Number | 1 | Severe_Early-Onset_Mitochondrial_Disease_and_Loss_of_Mitochondrial_DNA_Copy_Number |
| Lethal_Neurometabolic_Disorder_of_Early_Childhood | 1 | Lethal_Neurometabolic_Disorder_of_Early_Childhood |
| Intellectual_Disability,_Ataxia,_and_Facial_Dysmorphism | 1 | Intellectual_Disability,_Ataxia,_and_Facial_Dysmorphism |
| Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity. | 1 | Spastic_paraplegia,_intellectual_disability,_nystagmus,_and_obesity. |
| Intellectual_Disability_Accompanied_by_Epilepsy_and_Autistic_Features | 1 | Intellectual_Disability_Accompanied_by_Epilepsy_and_Autistic_Features |
| Lethal_arthroogryposis | 1 | Lethal_arthroogryposis |
| Early-Onset_Neurodegenerative_Encephalopathy | 1 | Early-Onset_Neurodegenerative_Encephalopathy |
| Early-Onset_Progressive_Encephalopathy_with_Distal_Spinal_Muscular_Atrophy | 1 | Early-Onset_Progressive_Encephalopathy_with_Distal_Spinal_Muscular_Atrophy |
| Developmental_delay,_macrocephaly,_and_dysmorphic_features | 1 | Developmental_delay,_macrocephaly,_and_dysmorphic_features |
| ARID2-Coffin-Siris_like_disorder | 1 | ARID2-Coffin-Siris_like_disorder |
| Epileptic_encephalopathy_with_complex_movement_disorder_and_regression | 1 | Epileptic_encephalopathy_with_complex_movement_disorder_and_regression |
| DLG4_related_intellectual_disability | 1 | DLG4_related_intellectual_disability |
| HECW2-related_neurodevelopmental_disorder | 1 | HECW2-related_neurodevelopmental_disorder |
| MORC2_-_axonal_neuropathy_and_neurodevelopmental_disorder | 1 | MORC2_-_axonal_neuropathy_and_neurodevelopmental_disorder |
| TRIP12-related_intellectual_disability_with/without_autism_spectrum_disorder | 1 | TRIP12-related_intellectual_disability_with/without_autism_spectrum_disorder |
| Early-Onset_Myopathy_with_Internalized_Nuclei_and_Myofibrillar_Disorganization | 1 | Early-Onset_Myopathy_with_Internalized_Nuclei_and_Myofibrillar_Disorganization |
| Glycine_Encephalopathy_with_Arthrogryposis | 1 | Glycine_Encephalopathy_with_Arthrogryposis |
| Cobblestone_Lissencephaly | 1 | Cobblestone_Lissencephaly |
| Childhood-Onset_Dystonia_and_Optic_Atrophy | 1 | Childhood-Onset_Dystonia_and_Optic_Atrophy |
| Vitamin-B6-Dependent_Epilepsy | 1 | Vitamin-B6-Dependent_Epilepsy |
| Epileptic_Encephalopathy_with_Optic_Atrophy | 1 | Epileptic_Encephalopathy_with_Optic_Atrophy |
| Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness | 1 | Coloboma,_Osteopetrosis,_Microphthalmia,_Macrocephaly,_Albinism,_and_Deafness |
| Early-Onset_Severe_Encephalopathy | 1 | Early-Onset_Severe_Encephalopathy |
| X-Linked_Primary_Ciliary_Dyskinesia_with_Outer_and_Inner_Dynein_Arm_Defects | 1 | X-Linked_Primary_Ciliary_Dyskinesia_with_Outer_and_Inner_Dynein_Arm_Defects |
| Childhood-Onset,_Slowly_Progressive_Nemaline_Myopathy | 1 | Childhood-Onset,_Slowly_Progressive_Nemaline_Myopathy |
| Hyperphenylalaninemia,_Dystonia,_and_Intellectual_Disability | 1 | Hyperphenylalaninemia,_Dystonia,_and_Intellectual_Disability |
| NEXMIF-related_Intellectual_disability_and_epilepsy_(XLD) | 1 | NEXMIF-related_Intellectual_disability_and_epilepsy_(XLD) |
| MYH10-related_Multiple_congenital_anomalies | 1 | MYH10-related_Multiple_congenital_anomalies |
| Tooth_Agenesis | 1 | Tooth_Agenesis |
| PEHO_Like_condition | 1 | PEHO_Like_condition |
| HIST1H4C | 1 | HIST1H4C |
| Rahman_syndrome | 1 | Rahman_syndrome |
| Global_Developmental_Delay,_Multiple_Malformations | 1 | Global_Developmental_Delay,_Multiple_Malformations |
| ACTB_Haploinsufficiency_syndrome | 1 | ACTB_Haploinsufficiency_syndrome |
| Skeletal_dysplasia_with_severe_neurological_disease | 1 | Skeletal_dysplasia_with_severe_neurological_disease |
| Brain_atrophy,_Dandy_Walker_and_Contractures | 1 | Brain_atrophy,_Dandy_Walker_and_Contractures |
| Short_stature,_palatal_anomalies,_congenital_heart_disease,_and_skeletal_malformations | 1 | Short_stature,_palatal_anomalies,_congenital_heart_disease,_and_skeletal_malformations |
| Beaulieu-Boycott-Innes_syndrome | 1 | Beaulieu-Boycott-Innes_syndrome |
| CILIARY_DYSKINESIA,_PRIMARY,_3 | 1 | CILIARY_DYSKINESIA,_PRIMARY,_3 |
| Intellectual_Disability | 1 | Intellectual_Disability |
| CFAP410-related_retinal_dystrophy_with_or_without_axial_spondylometaphyseal_dysplasia | 1 | CFAP410-related_retinal_dystrophy_with_or_without_axial_spondylometaphyseal_dysplasia |
| Mitochondrial_depletion_syndrome | 1 | Mitochondrial_depletion_syndrome |
| Craniofacial_anomalies,_corpus_callosum_dysgenesis,_ptosis,_and_developmental_delay | 1 | Craniofacial_anomalies,_corpus_callosum_dysgenesis,_ptosis,_and_developmental_delay |
| Intellectual_Disability,_Seizures,_Abnormal_Gait,_and_Distinctive_Facial_Features | 1 | Intellectual_Disability,_Seizures,_Abnormal_Gait,_and_Distinctive_Facial_Features |
| Chitayat_syndrome:_hyperphalangism,_characteristic_facies,_hallux_valgus_and_bronchomalacia | 1 | Chitayat_syndrome:_hyperphalangism,_characteristic_facies,_hallux_valgus_and_bronchomalacia |
| Leigh_Syndrome_with_Instability_of_the_Small_Mitoribosomal_Subunit | 1 | Leigh_Syndrome_with_Instability_of_the_Small_Mitoribosomal_Subunit |
| Childhood-Onset_Neurodegeneration | 1 | Childhood-Onset_Neurodegeneration |
| Mitochondrial_Lipoylation_Defect_Associated_with_Severe_Neonatal_Encephalopathy | 1 | Mitochondrial_Lipoylation_Defect_Associated_with_Severe_Neonatal_Encephalopathy |
| Progressive_Childhood_Encephalopathy_and_Golgi_Dysfunction | 1 | Progressive_Childhood_Encephalopathy_and_Golgi_Dysfunction |
| Early-Onset_Epilepsy | 1 | Early-Onset_Epilepsy |
| Neonatal-onset_epilepsy,_defective_mitochondrial_energy_metabolism,_and_glycine_elevation | 1 | Neonatal-onset_epilepsy,_defective_mitochondrial_energy_metabolism,_and_glycine_elevation |
| Leigh_syndrome_with_secondary_deficiency_for_pyruvate_and_alpha-ketoglutarate_dehydrogenase. | 1 | Leigh_syndrome_with_secondary_deficiency_for_pyruvate_and_alpha-ketoglutarate_dehydrogenase. |
| Joubert_syndrome_30 | 1 | Joubert_syndrome_30 |
| Intellectual_Disability_with_or_without_Epileptic_Encephalopathy | 1 | Intellectual_Disability_with_or_without_Epileptic_Encephalopathy |
| Megacystis_Microcolon_Intestinal_Hypoperistalsis_Syndrome | 1 | Megacystis_Microcolon_Intestinal_Hypoperistalsis_Syndrome |
| Progressive_Spastic_Ataxia_and_Hypomyelination | 1 | Progressive_Spastic_Ataxia_and_Hypomyelination |
| Lethal_Infantile_Epileptic_Encephalopathy | 1 | Lethal_Infantile_Epileptic_Encephalopathy |
| Intellectual_disability_and_epilepsy | 1 | Intellectual_disability_and_epilepsy |
| JOINT_LAXITY,_SHORT_STATURE,_AND_MYOPIA | 1 | JOINT_LAXITY,_SHORT_STATURE,_AND_MYOPIA |
| CWC27-related_retinitis_pigmentosa,_short_stature,_skeletal_anomalies_and_intellectual_disability_with_or_without_ectodermal_features | 1 | CWC27-related_retinitis_pigmentosa,_short_stature,_skeletal_anomalies_and_intellectual_disability_with_or_without_ectodermal_features |
| ARTHROGRYPOSIS_MULTIPLEX_CONGENITA | 1 | ARTHROGRYPOSIS_MULTIPLEX_CONGENITA |
| Neurodevelopmental,_Cardiac,_and_Renal_Syndrome | 1 | Neurodevelopmental,_Cardiac,_and_Renal_Syndrome |
| Intellectual_Disability_Syndrome_Associated_with_Seizures_and_Dysmorphic_Features | 1 | Intellectual_Disability_Syndrome_Associated_with_Seizures_and_Dysmorphic_Features |
| Microcephaly,_hearing_loss,_and_dysmorphic_features | 1 | Microcephaly,_hearing_loss,_and_dysmorphic_features |
| Muscular_dystrophy,_congenital,_with_cataracts_and_intellectual_disability | 1 | Muscular_dystrophy,_congenital,_with_cataracts_and_intellectual_disability |
| Infantile_Epilepsy,_Cataracts,_and_Profound_Developmental_Delay | 1 | Infantile_Epilepsy,_Cataracts,_and_Profound_Developmental_Delay |
| Mosaic_Variegated_Aneuploidy_and_Wilms_Tumour | 1 | Mosaic_Variegated_Aneuploidy_and_Wilms_Tumour |
| Midline-bridging_neuronal_commissure_disruption,_horizontal_gaze_palsy,_scoliosis,_and_intellectual_disability | 1 | Midline-bridging_neuronal_commissure_disruption,_horizontal_gaze_palsy,_scoliosis,_and_intellectual_disability |
| Congenital_heart_defects_and_skeletal_malformations | 1 | Congenital_heart_defects_and_skeletal_malformations |
| Developmental_delay_and_distinctive_facial_features | 1 | Developmental_delay_and_distinctive_facial_features |
| 3MC | 1 | 3MC |
| DHRS3_related_craniosynostosis | 1 | DHRS3_related_craniosynostosis |
| Peroxisome_biogenesis_disorder_14B | 1 | Peroxisome_biogenesis_disorder_14B |
| Posteriorly_predominant_pachygyria_and_severe_microcephaly | 1 | Posteriorly_predominant_pachygyria_and_severe_microcephaly |
| Hartsfield_syndrome | 1 | Hartsfield_syndrome |
| Severe_Growth_Retardation,_Spine_Malformations,_and_Developmental_Delays | 1 | Severe_Growth_Retardation,_Spine_Malformations,_and_Developmental_Delays |
| Non-degenerative_Pontocerebellar_Hypoplasia | 1 | Non-degenerative_Pontocerebellar_Hypoplasia |
| RAC1-related_neurodevelopmental_disorder | 1 | RAC1-related_neurodevelopmental_disorder |
| Unspecified_Neurodevelopmental_Disorder | 1 | Unspecified_Neurodevelopmental_Disorder |
| Developmental_and_Speech_Delay,_Postnatal_Microcephaly,_and_Dysmorphic_Features | 1 | Developmental_and_Speech_Delay,_Postnatal_Microcephaly,_and_Dysmorphic_Features |
| Severe_Neurodevelopmental_Disease_with_Seizures | 1 | Severe_Neurodevelopmental_Disease_with_Seizures |
| Severe_Neonatal-,_Childhood-,_or_Later-Onset_Cardiomyopathy_Associated_with_Combined_Respiratory-Chain_Deficiencies | 1 | Severe_Neonatal-,_Childhood-,_or_Later-Onset_Cardiomyopathy_Associated_with_Combined_Respiratory-Chain_Deficiencies |
| Joubert_Syndrome_with_Cranio-facial_and_Skeletal_Defects | 1 | Joubert_Syndrome_with_Cranio-facial_and_Skeletal_Defects |
| Gorlin-Chaudhry-Moss_syndrome_(GCMS);__Syndrome_with_Hypertrichosis,_Progeroid_Appearance,_and_Mitochondrial_Dysfunction | 1 | Gorlin-Chaudhry-Moss_syndrome_(GCMS);__Syndrome_with_Hypertrichosis,_Progeroid_Appearance,_and_Mitochondrial_Dysfunction |
| Spondylometaphyseal_Dysplasia_with_Corner_Fractures | 1 | Spondylometaphyseal_Dysplasia_with_Corner_Fractures |
| Developmental_Delay,_Epilepsy,_Cerebellar_Atrophy,_and_Osteopenia | 1 | Developmental_Delay,_Epilepsy,_Cerebellar_Atrophy,_and_Osteopenia |
| Nephrotic_syndrome_with_primary_microcephaly | 1 | Nephrotic_syndrome_with_primary_microcephaly |
| Dienoyl-CoA_reductase_deficiency_with_hyperlysinemia | 1 | Dienoyl-CoA_reductase_deficiency_with_hyperlysinemia |
| Warburg_micro_syndrome_4 | 1 | Warburg_micro_syndrome_4 |
| Uridine-responsive_epileptic_encephalopathy | 1 | Uridine-responsive_epileptic_encephalopathy |
| SMC1A-related_Epileptic_Encephalopathy | 1 | SMC1A-related_Epileptic_Encephalopathy |
| Syndromic_neutropenia_with_Shwachman-Diamond-like_features | 1 | Syndromic_neutropenia_with_Shwachman-Diamond-like_features |
| Diamond-Blackfan_anemia_with_cleft_palate_and_abnormal_thumbs | 1 | Diamond-Blackfan_anemia_with_cleft_palate_and_abnormal_thumbs |
| IMAGe_Syndrome | 1 | IMAGe_Syndrome |
| Developmental_epileptic_encephalopathy | 1 | Developmental_epileptic_encephalopathy |
| SETD2-associated_Overgrowth_Syndrome_(Luscan-Lumish_syndrome) | 1 | SETD2-associated_Overgrowth_Syndrome_(Luscan-Lumish_syndrome) |
| MSI1-associated_Microcephaly | 1 | MSI1-associated_Microcephaly |
| Autism,_intellectual_disability,_basal_ganglia_dysfunction_and_epilepsy | 1 | Autism,_intellectual_disability,_basal_ganglia_dysfunction_and_epilepsy |
| Intellectual_disability,_encephalopathy,_impaired_GPI-anchor_maturation_ | 1 | Intellectual_disability,_encephalopathy,_impaired_GPI-anchor_maturation_ |
| Coffin_Siris_like_disorder | 1 | Coffin_Siris_like_disorder |
| Macrocephaly_and_impaired_speech_and_language | 1 | Macrocephaly_and_impaired_speech_and_language |
| Intellectual_disability_with_facial_dysmorphism | 1 | Intellectual_disability_with_facial_dysmorphism |
| Craniofacial_with_neurodevelopment_disorders | 1 | Craniofacial_with_neurodevelopment_disorders |
| NOVA2-associated_neurodevelopmental_disorder | 1 | NOVA2-associated_neurodevelopmental_disorder |
| 15q13.3_deletions_phenocopy | 1 | 15q13.3_deletions_phenocopy |
| Stickler_syndrome | 1 | Stickler_syndrome |
| Disordered_cortical_neuronal_migration | 1 | Disordered_cortical_neuronal_migration |
| Severe_early-onset_encephalopathy_with_progressive_microcephaly, | 1 | Severe_early-onset_encephalopathy_with_progressive_microcephaly, |
| Severe_early-onset_encephalopathy_with_progressive_microcephaly | 1 | Severe_early-onset_encephalopathy_with_progressive_microcephaly |
| STAG2-related_developmental_delay_with_microcephaly_and_congenital_anomalies | 1 | STAG2-related_developmental_delay_with_microcephaly_and_congenital_anomalies |
| Brown-Vialetto-Van_Laere_syndrome_2 | 1 | Brown-Vialetto-Van_Laere_syndrome_2 |
| SNT1-related_cerebroretinal_microangiopathy_with_calcifications_and_cysts | 1 | SNT1-related_cerebroretinal_microangiopathy_with_calcifications_and_cysts |
| Recessive_gain_of_function_causing_increased_interferon_signalling | 1 | Recessive_gain_of_function_causing_increased_interferon_signalling |
| Pierpont_syndrome | 1 | Pierpont_syndrome |
| EPT1-related_complex_progressive_hereditary_spastic_paraplegia | 1 | EPT1-related_complex_progressive_hereditary_spastic_paraplegia |
| Tetra-amelia_with_lung_agenesis | 1 | Tetra-amelia_with_lung_agenesis |
| PRRX1-related_craniosynostosis | 1 | PRRX1-related_craniosynostosis |
| Capillary_malformation-arteriovenous_malformation_2 | 1 | Capillary_malformation-arteriovenous_malformation_2 |
| Bladder_exstrophy_plus | 1 | Bladder_exstrophy_plus |
| Hirschprung_disease_with_intestinal_pseudo-obstruction | 1 | Hirschprung_disease_with_intestinal_pseudo-obstruction |
| Megacystis-microcolon-intestinal_hypoperistalsis_syndrome | 1 | Megacystis-microcolon-intestinal_hypoperistalsis_syndrome |
| Stromme_syndrome | 1 | Stromme_syndrome |
| KMT2E-related_neurodevelopmental_disorder/O'Donnell-Luria-Rodan_syndrome | 1 | KMT2E-related_neurodevelopmental_disorder/O'Donnell-Luria-Rodan_syndrome |
| Microcephalic_primordial_dwarfism | 1 | Microcephalic_primordial_dwarfism |
| Chondrodysplasia_with_multiple_dislocations_and_amelogenesis_imperfecta | 1 | Chondrodysplasia_with_multiple_dislocations_and_amelogenesis_imperfecta |
| KLHL7-related_PERCHING_syndrome_(developmental_delay,_dysmorphism,_feeding_and_respiratory_difficulties,_hypotonia,_and_joint_contractures) | 1 | KLHL7-related_PERCHING_syndrome_(developmental_delay,_dysmorphism,_feeding_and_respiratory_difficulties,_hypotonia,_and_joint_contractures) |
| FHEIG_(facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth) | 1 | FHEIG_(facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth) |
| Primary_microcephaly,_cortical_malformation_and_epileptic_encephalopathy | 1 | Primary_microcephaly,_cortical_malformation_and_epileptic_encephalopathy |
| Neurodevelopment_disorder | 1 | Neurodevelopment_disorder |
| Fontaine_progeroid_syndrome | 1 | Fontaine_progeroid_syndrome |
| IMAGe_Syndrome_with_variable_immunodeficiency | 1 | IMAGe_Syndrome_with_variable_immunodeficiency |
| Epileptic_Encephalopathy_with_Contractures,_Macrocephaly,_and_Dyskinesia | 1 | Epileptic_Encephalopathy_with_Contractures,_Macrocephaly,_and_Dyskinesia |
| Mucociliary_Clearance_and_Laterality_Defects | 1 | Mucociliary_Clearance_and_Laterality_Defects |
| MIRAGE_-_myelodysplasia,_infection,_restriction_of_growth,_adrenal_hypoplasia,_genital_phenotypes,_enteropathy | 1 | MIRAGE_-_myelodysplasia,_infection,_restriction_of_growth,_adrenal_hypoplasia,_genital_phenotypes,_enteropathy |
| Neurodegenerative_disorder_exacerbated_by_febrile_illnesses | 1 | Neurodegenerative_disorder_exacerbated_by_febrile_illnesses |
| Cornelia_de_Lange_Syndrome_HDAC8_X-linked_dominant | 1 | Cornelia_de_Lange_Syndrome_HDAC8_X-linked_dominant |
| AGNATHIA-OTOCEPHALY_COMPLEX_biallelic | 1 | AGNATHIA-OTOCEPHALY_COMPLEX_biallelic |
| EPILEPTIC_ENCEPHALOPATHY_Gain-of-function | 1 | EPILEPTIC_ENCEPHALOPATHY_Gain-of-function |
| PHACTR1-associated_neurodevelopment_disorder | 1 | PHACTR1-associated_neurodevelopment_disorder |
| Neurometabolic_disorder_due_to_FARS2_deficiency | 1 | Neurometabolic_disorder_due_to_FARS2_deficiency |
| Cantu_syndrome | 1 | Cantu_syndrome |
| Congenital_Disorder_of_Glycosylation_with_Defective_Fucosylation | 1 | Congenital_Disorder_of_Glycosylation_with_Defective_Fucosylation |
| Mutations_in_ATP6V1E1_or_ATP6V1A_Cause_Autosomal_Recessive_Cutis_Laxa | 1 | Mutations_in_ATP6V1E1_or_ATP6V1A_Cause_Autosomal_Recessive_Cutis_Laxa |
| Autosomal_Recessive_Cutis_Laxa | 1 | Autosomal_Recessive_Cutis_Laxa |
| Neuro_immuno_skeletal_Dysplasia_Syndrome | 1 | Neuro_immuno_skeletal_Dysplasia_Syndrome |
| Autosomal_Recessive_Complicated_Spastic_Paraparesis_SPG23 | 1 | Autosomal_Recessive_Complicated_Spastic_Paraparesis_SPG23 |
| ATP5F1D_metabolic_disorder | 1 | ATP5F1D_metabolic_disorder |
| Hypomyelinating_Leukodystrophy | 1 | Hypomyelinating_Leukodystrophy |
| Sensorineural_Hearing_Loss_Hypoglycemia_and_Multiple_OXPHOS_Complex_Deficiencies | 1 | Sensorineural_Hearing_Loss_Hypoglycemia_and_Multiple_OXPHOS_Complex_Deficiencies |
| Neurodegeneration_in_Early_Childhood | 1 | Neurodegeneration_in_Early_Childhood |
| Cerebellar_Atrophy_with_Spinal_Motor_Neuronopathy | 1 | Cerebellar_Atrophy_with_Spinal_Motor_Neuronopathy |
| Severe_obesity_with_neurobehavioral_features | 1 | Severe_obesity_with_neurobehavioral_features |
| Pontocerebellar_hypoplasia_type_2D | 1 | Pontocerebellar_hypoplasia_type_2D |
| Progressive_cerebella-cerebral_atrophy_type_2 | 1 | Progressive_cerebella-cerebral_atrophy_type_2 |
| Infantile_ataxia_with_oculomotor_and_pyramidal_signs | 1 | Infantile_ataxia_with_oculomotor_and_pyramidal_signs |
| SCA14 | 1 | SCA14 |
| Intellectual_disability_and_iris_abnormalities | 1 | Intellectual_disability_and_iris_abnormalities |
| Transient_Neonatal_Hyperparathyroidism | 1 | Transient_Neonatal_Hyperparathyroidism |
| Recessive_Spondylocarpotarsal_Synostosis_Syndrome | 1 | Recessive_Spondylocarpotarsal_Synostosis_Syndrome |
| Defect_in_Cholesterol_Biosynthesis | 1 | Defect_in_Cholesterol_Biosynthesis |
| Intellectual_Disability_with_Seizures | 1 | Intellectual_Disability_with_Seizures |
| Developmental_Delay_Congenital_Anomalies_and_Dysmorphic_Features | 1 | Developmental_Delay_Congenital_Anomalies_and_Dysmorphic_Features |
| Enhanced_Growth_and_Connective_Tissue_Abnormalities | 1 | Enhanced_Growth_and_Connective_Tissue_Abnormalities |
| LNPK-associated_neurodevelopmental_disorder | 1 | LNPK-associated_neurodevelopmental_disorder |
| Variable_Neurodevelopmental_Disorder | 1 | Variable_Neurodevelopmental_Disorder |
| Neurological_Phenotypes | 1 | Neurological_Phenotypes |
| Syndromic_Neurodevelopmental_Disorder_with_Distinctive_Facial_Dysmorphism | 1 | Syndromic_Neurodevelopmental_Disorder_with_Distinctive_Facial_Dysmorphism |
| Early_Onset_Isolated_Mitochondrial_Complex_I_Deficiency | 1 | Early_Onset_Isolated_Mitochondrial_Complex_I_Deficiency |
| Neurological_Syndrome_Fetal_Akinesia_/Epileptic_Encephalopathy | 1 | Neurological_Syndrome_Fetal_Akinesia_/Epileptic_Encephalopathy |
| Facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth | 1 | Facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual_disability/developmental_delay,_and_gingival_overgrowth |
| Saul_Wilson_Syndrome | 1 | Saul_Wilson_Syndrome |
| Craniofacial_Neurological_Cardiovascular_and_Skeletal_Features | 1 | Craniofacial_Neurological_Cardiovascular_and_Skeletal_Features |
| Woolly_Hair_Liver_Dysfunction_Dysmorphic_Features_and_Global_Developmental_Delay | 1 | Woolly_Hair_Liver_Dysfunction_Dysmorphic_Features_and_Global_Developmental_Delay |
| Renal_Hypomagnesemia_Refractory_Seizures_and_Intellectual_Disability | 1 | Renal_Hypomagnesemia_Refractory_Seizures_and_Intellectual_Disability |
| Neurodegeneration_with_Developmental_Delay_Ataxia_and_Axonal_Neuropathy | 1 | Neurodegeneration_with_Developmental_Delay_Ataxia_and_Axonal_Neuropathy |
| MACROCEPHALY,_ACQUIRED,_WITH_IMPAIRED_INTELLECTUAL_DEVELOPMENT | 1 | MACROCEPHALY,_ACQUIRED,_WITH_IMPAIRED_INTELLECTUAL_DEVELOPMENT |
| Autosomal_Recessive_Wiedemann_Rautenstrauch_Syndrome | 1 | Autosomal_Recessive_Wiedemann_Rautenstrauch_Syndrome |
| Motile_Cilia_Defects_and_Situs_Inversus | 1 | Motile_Cilia_Defects_and_Situs_Inversus |
| Defects_in_Neuronal_Migration_and_Axon_Guidance | 1 | Defects_in_Neuronal_Migration_and_Axon_Guidance |
| Intellectual_Disability_with_Speech_Delay_Microcephaly_Short_Stature_and_Aggressive_Behavior | 1 | Intellectual_Disability_with_Speech_Delay_Microcephaly_Short_Stature_and_Aggressive_Behavior |
| Neurodevelopmental_Delay_Congenital_Heart_Defects_and_Distinct_Facial_Dysmorphism | 1 | Neurodevelopmental_Delay_Congenital_Heart_Defects_and_Distinct_Facial_Dysmorphism |
| Nephronophthisis_Related_Ciliopathy | 1 | Nephronophthisis_Related_Ciliopathy |
| Baratela_Scott_Syndrome | 1 | Baratela_Scott_Syndrome |
| Syndromic_Intellectual_Disability_and_Developmental_Delay | 1 | Syndromic_Intellectual_Disability_and_Developmental_Delay |
| Severe_Neurodevelopmental_Syndrome_ | 1 | Severe_Neurodevelopmental_Syndrome_ |
| Congenital_Microcephaly_Epileptic_Encephalopathy_Blindness_and_Failure_to_Thrive | 1 | Congenital_Microcephaly_Epileptic_Encephalopathy_Blindness_and_Failure_to_Thrive |
| Syndromic_Intellectual_Disability_Resembling_Other_PP2A_Related_Neurodevelopmental_Disorders | 1 | Syndromic_Intellectual_Disability_Resembling_Other_PP2A_Related_Neurodevelopmental_Disorders |
| Syndromic_Neurodevelopmental_Disorder | 1 | Syndromic_Neurodevelopmental_Disorder |
| Intellectual_Disability_with_Variable_Brain_Anomalies | 1 | Intellectual_Disability_with_Variable_Brain_Anomalies |
| Impaired_Cilia_Orientation_and_Mucociliary_Clearance | 1 | Impaired_Cilia_Orientation_and_Mucociliary_Clearance |
| Neurodevelopmental_Disease_Associated_with_Mild_Dysmorphism | 1 | Neurodevelopmental_Disease_Associated_with_Mild_Dysmorphism |
| Neurodevelopmental_Disorder_of_Hypusination | 1 | Neurodevelopmental_Disorder_of_Hypusination |
| Microcephaly_Developmental_Delay_and_Brittle_Hair_and_Nails | 1 | Microcephaly_Developmental_Delay_and_Brittle_Hair_and_Nails |
| Autism_and_Syndromic_Intellectual_Disability | 1 | Autism_and_Syndromic_Intellectual_Disability |
| congenital_hypotonia,_epilepsy,_developmental_delay,_digit_abnormalities | 1 | congenital_hypotonia,_epilepsy,_developmental_delay,_digit_abnormalities |
| MED13_-_Neurodevelopment_disorder | 1 | MED13_-_Neurodevelopment_disorder |
| NBEA_Neurodevelopment_disorder_with_seizures | 1 | NBEA_Neurodevelopment_disorder_with_seizures |
| Au-Kline_Syndrome | 1 | Au-Kline_Syndrome |
| DIETS-JONGMANS_SYNDROME | 1 | DIETS-JONGMANS_SYNDROME |
| EIF3F_related_developmental_disorder | 1 | EIF3F_related_developmental_disorder |
| MN1_C-terminal_truncation_syndrome_ | 1 | MN1_C-terminal_truncation_syndrome_ |
| SETD1B_associated_intellectual_disability,_epilepsy_and_autism | 1 | SETD1B_associated_intellectual_disability,_epilepsy_and_autism |
| Congenital_megabladder | 1 | Congenital_megabladder |
| Inherited_GPI_Biosynthesis_Defect_with_an_Axonal_Neuropathy_and_Metabolic_Abnormality | 1 | Inherited_GPI_Biosynthesis_Defect_with_an_Axonal_Neuropathy_and_Metabolic_Abnormality |
| Intellectual_Disability,_Central_Nervous_System_anomalies_and_Seizures | 1 | Intellectual_Disability,_Central_Nervous_System_anomalies_and_Seizures |
| Intellectual_Disability,_Central_Nervous_System_anomalies_and_Scoliosis | 1 | Intellectual_Disability,_Central_Nervous_System_anomalies_and_Scoliosis |
| Non-photosensitive_trichothiodystrophy | 1 | Non-photosensitive_trichothiodystrophy |
| Acute_Febrile_Encephalopathy | 1 | Acute_Febrile_Encephalopathy |
| Infantile-Onset_Recurrent_Acute_Liver_Failure_and_Skeletal_Abnormalities | 1 | Infantile-Onset_Recurrent_Acute_Liver_Failure_and_Skeletal_Abnormalities |
| NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY_AND_STRUCTURAL_BRAIN_ANOMALIES | 1 | NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY_AND_STRUCTURAL_BRAIN_ANOMALIES |
| BRAIN_ABNORMALITIES,_NEURODEGENERATION,_AND_DYSOSTEOSCLEROSIS | 1 | BRAIN_ABNORMALITIES,_NEURODEGENERATION,_AND_DYSOSTEOSCLEROSIS |
| KEIPERT_SYNDROME | 1 | KEIPERT_SYNDROME |
| NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS | 1 | NEURODEVELOPMENTAL_DISORDER_WITH_SEIZURES_AND_NONEPILEPTIC_HYPERKINETIC_MOVEMENTS |
| HOLOPROSENCEPHALY_12_WITH_OR_WITHOUT_PANCREATIC_AGENESIS | 1 | HOLOPROSENCEPHALY_12_WITH_OR_WITHOUT_PANCREATIC_AGENESIS |
| VAN_ESCH-O'DRISCOLL_SYNDROME | 1 | VAN_ESCH-O'DRISCOLL_SYNDROME |
| Congenital_Lower_Urinary_Tract_Obstruction | 1 | Congenital_Lower_Urinary_Tract_Obstruction |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_SEVERE_SPEECH_AND_AMBULATION_DEFECTS | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_WITH_SEVERE_SPEECH_AND_AMBULATION_DEFECTS |
| Nuclear_Envelopathy_with_Early_Progeroid_Appearance | 1 | Nuclear_Envelopathy_with_Early_Progeroid_Appearance |
| Ciliopathy-related_syndromic_intellectual_disability | 1 | Ciliopathy-related_syndromic_intellectual_disability |
| MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITH_OR_WITHOUT_CONGENITAL_HEART_DEFECTS | 1 | MULTIPLE_JOINT_DISLOCATIONS,_SHORT_STATURE,_AND_CRANIOFACIAL_DYSMORPHISM_WITH_OR_WITHOUT_CONGENITAL_HEART_DEFECTS |
| Bicuspid_Aortic_Valve_and_Aortic_Aneurysm | 1 | Bicuspid_Aortic_Valve_and_Aortic_Aneurysm |
| Malate-Aspartate_Shuttle-Related_Encephalopathy | 1 | Malate-Aspartate_Shuttle-Related_Encephalopathy |
| EPISODIC_PAIN_SYNDROME,_FAMILIAL | 1 | EPISODIC_PAIN_SYNDROME,_FAMILIAL |
| HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME_2 | 1 | HENNEKAM_LYMPHANGIECTASIA-LYMPHEDEMA_SYNDROME_2 |
| ACUTE_LIVER_FAILURE_(ALF)_IN_INFANCY_AND_CHILDHOOD;_SHORT_STATURE,_OPTIC_NERVE_ATROPHY,_AND_PELGER-HUET_ANOMALY | 1 | ACUTE_LIVER_FAILURE_(ALF)_IN_INFANCY_AND_CHILDHOOD;_SHORT_STATURE,_OPTIC_NERVE_ATROPHY,_AND_PELGER-HUET_ANOMALY |
| VAN_MALDERGEM_SYNDROME | 1 | VAN_MALDERGEM_SYNDROME |
| Primary_Microcephaly_or_macrocephaly_with_developmental_delay | 1 | Primary_Microcephaly_or_macrocephaly_with_developmental_delay |
| Pulmonary_artery_and_lung_hypoplasia,_agonadism,_omphalocele,_diaphragmatic_defects,_hypoplastic_left_heart_and_scimitar_syndrome | 1 | Pulmonary_artery_and_lung_hypoplasia,_agonadism,_omphalocele,_diaphragmatic_defects,_hypoplastic_left_heart_and_scimitar_syndrome |
| LINGO1_related_intellectual_disability_with_microcephaly,_speech_and_motor_delay | 1 | LINGO1_related_intellectual_disability_with_microcephaly,_speech_and_motor_delay |
| Cerebello-Oculo-Facio-Genital_syndrome | 1 | Cerebello-Oculo-Facio-Genital_syndrome |
| KCNA4-related_abnormal_striatum,_congenital_cataract_and_intellectual_disability | 1 | KCNA4-related_abnormal_striatum,_congenital_cataract_and_intellectual_disability |
| Developmental_and_infantile_epileptic_encephalopathy | 1 | Developmental_and_infantile_epileptic_encephalopathy |
| Severe_microcephaly_and_short_stature | 1 | Severe_microcephaly_and_short_stature |
| Multiple_malformations_of_neural_tube,_ear,_genitourinary_and_gastrointestinal_systems | 1 | Multiple_malformations_of_neural_tube,_ear,_genitourinary_and_gastrointestinal_systems |
| Developmental_Disorder_with_Microcephaly_and_Congenital_Arthrogryposis | 1 | Developmental_Disorder_with_Microcephaly_and_Congenital_Arthrogryposis |
| Lissencephaly,_Subcortical_Heterotopia,_and_Global_Developmental_Delay | 1 | Lissencephaly,_Subcortical_Heterotopia,_and_Global_Developmental_Delay |
| Syndromic_Neurodevelopmental_Disorder_with_Corpus_Collosum,_Axon,_Cardiac,_Ocular,_and_Genital_Defects | 1 | Syndromic_Neurodevelopmental_Disorder_with_Corpus_Collosum,_Axon,_Cardiac,_Ocular,_and_Genital_Defects |
| LEUKODYSTROPHY,_HYPOMYELINATING,_18 | 1 | LEUKODYSTROPHY,_HYPOMYELINATING,_18 |
| NEURODEVELOPMENTAL_DISORDER_WITH_OR_WITHOUT_SEIZURES_AND_GAIT_ABNORMALITIES | 1 | NEURODEVELOPMENTAL_DISORDER_WITH_OR_WITHOUT_SEIZURES_AND_GAIT_ABNORMALITIES |
| GALLOWAY-MOWAT_SYNDROME_8 | 1 | GALLOWAY-MOWAT_SYNDROME_8 |
| GALLOWAY-MOWAT_SYNDROME_7 | 1 | GALLOWAY-MOWAT_SYNDROME_7 |
| GALLOWAY-MOWAT_SYNDROME_4 | 1 | GALLOWAY-MOWAT_SYNDROME_4 |
| GALLOWAY-MOWAT_SYNDROME_6 | 1 | GALLOWAY-MOWAT_SYNDROME_6 |
| GALLOWAY-MOWAT_SYNDROME_5 | 1 | GALLOWAY-MOWAT_SYNDROME_5 |
| GALLOWAY-MOWAT_SYNDROME_2 | 1 | GALLOWAY-MOWAT_SYNDROME_2 |
| MITOCHONDRIAL_SHORT-CHAIN_ENOYL-CoA_HYDRATASE_1_DEFICIENCY | 1 | MITOCHONDRIAL_SHORT-CHAIN_ENOYL-CoA_HYDRATASE_1_DEFICIENCY |
| Desbuquois_dysplasia_1 | 1 | Desbuquois_dysplasia_1 |
| GELEOPHYSIC_DYSPLASIA_1 | 1 | GELEOPHYSIC_DYSPLASIA_1 |
| NCOR1-related_developmental_disorder | 1 | NCOR1-related_developmental_disorder |
| Marfanoid_Habitus_and_Cognitive_Impairment | 1 | Marfanoid_Habitus_and_Cognitive_Impairment |
| Transient_Hypomyelination_during_Infancy | 1 | Transient_Hypomyelination_during_Infancy |
| Intellectual_Disability,_Developmental_Delay,_and_Short_Stature | 1 | Intellectual_Disability,_Developmental_Delay,_and_Short_Stature |
| Motile_Ciliopathy_with_Hydrocephalus_and_Randomization_of_Left/Right_Body_Asymmetry | 1 | Motile_Ciliopathy_with_Hydrocephalus_and_Randomization_of_Left/Right_Body_Asymmetry |
| MEDNIK-like_Syndrome | 1 | MEDNIK-like_Syndrome |
| Spondyloepimetaphyseal_Dysplasia_with_Severe_Short_Stature | 1 | Spondyloepimetaphyseal_Dysplasia_with_Severe_Short_Stature |
| Microcephaly_and_Lissencephaly_Spectrum_Disorders | 1 | Microcephaly_and_Lissencephaly_Spectrum_Disorders |
| Developmental_delay,_hypotonia,_and_autistic_features | 1 | Developmental_delay,_hypotonia,_and_autistic_features |
| TASP1-related_neurodevelopmental_disorder | 1 | TASP1-related_neurodevelopmental_disorder |
| MICROCEPHALY,_FACIAL_DYSMORPHISM,_RENAL_AGENESIS,_AND_AMBIGUOUS_GENITALIA_SYNDROME | 1 | MICROCEPHALY,_FACIAL_DYSMORPHISM,_RENAL_AGENESIS,_AND_AMBIGUOUS_GENITALIA_SYNDROME |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_102 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_102 |
| QUESTION_MARK_EARS,_ISOLATED | 1 | QUESTION_MARK_EARS,_ISOLATED |
| RARB-related_microphthalmia_syndromic | 1 | RARB-related_microphthalmia_syndromic |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99;_MRX99 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED_99;_MRX99 |
| AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE | 1 | AICARDI-GOUTIERES_SYNDROME_ASSOCIATED_WITH_A_TYPE_I_INTERFERON_SIGNATURE |
| CATARACT_17,_MULTIPLE_TYPES | 1 | CATARACT_17,_MULTIPLE_TYPES |
| Global_Developmental_Delay,_Hypotonia,_Scoliosis,_and_Cerebellar_Atrophy | 1 | Global_Developmental_Delay,_Hypotonia,_Scoliosis,_and_Cerebellar_Atrophy |
| INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO | 1 | INSULIN-LIKE_GROWTH_FACTOR_I,_RESISTANCE_TO |
| Gillespie_Syndrome | 1 | Gillespie_Syndrome |
| MICROPHTHALMIA,_SYNDROMIC_14 | 1 | MICROPHTHALMIA,_SYNDROMIC_14 |
| ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY | 1 | ARTHROGRYPOSIS_MULTIPLEX_CONGENITA_AND_INTELLECTUAL_DISABILITY |
| AGO1-related_developmental_disorder_(monoallelic) | 1 | AGO1-related_developmental_disorder_(monoallelic) |
| DNM1L-related_developmental_disorder_(monoallelic) | 1 | DNM1L-related_developmental_disorder_(monoallelic) |
| BCL11B-related_neurodevelopmental_disorder | 1 | BCL11B-related_neurodevelopmental_disorder |
| CSNK2B-related_developmental_disorder_(monoallelic) | 1 | CSNK2B-related_developmental_disorder_(monoallelic) |
| CTBP1-related_developmental_disorder_(monoallelic) | 1 | CTBP1-related_developmental_disorder_(monoallelic) |
| KCND3-related_developmental_disorder_(monoallelic) | 1 | KCND3-related_developmental_disorder_(monoallelic) |
| HK1-related_developmental_disorder_(monoallelic) | 1 | HK1-related_developmental_disorder_(monoallelic) |
| SPAST-related_developmental_disorder_(monoallelic) | 1 | SPAST-related_developmental_disorder_(monoallelic) |
| MEIS2-related_developmental_disorder_(monoallelic) | 1 | MEIS2-related_developmental_disorder_(monoallelic) |
| NR4A2-related_developmental_disorder_(monoallelic) | 1 | NR4A2-related_developmental_disorder_(monoallelic) |
| NSD2-related_developmental_disorder_(monoallelic) | 1 | NSD2-related_developmental_disorder_(monoallelic) |
| OGT-related_developmental_disorder_(hemizygous) | 1 | OGT-related_developmental_disorder_(hemizygous) |
| OGT-related_developmental_disorder_(X-linked_dominant) | 1 | OGT-related_developmental_disorder_(X-linked_dominant) |
| PBX1-related_developmental_disorder_(monoallelic) | 1 | PBX1-related_developmental_disorder_(monoallelic) |
| PRPF8-related_developmental_disorder_(monoallelic) | 1 | PRPF8-related_developmental_disorder_(monoallelic) |
| AP2S1-related_developmental_disorder_(monoallelic) | 1 | AP2S1-related_developmental_disorder_(monoallelic) |
| SYNCRIP-related_developmental_disorder_(monoallelic) | 1 | SYNCRIP-related_developmental_disorder_(monoallelic) |
| TCF7L2-related_developmental_disorder_(monoallelic) | 1 | TCF7L2-related_developmental_disorder_(monoallelic) |
| VCP-related_developmental_disorder_(monoallelic) | 1 | VCP-related_developmental_disorder_(monoallelic) |
| ZNF292-related_developmental_disorder_(monoallelic) | 1 | ZNF292-related_developmental_disorder_(monoallelic) |
| DDX23-related_developmental_disorder_(monoallelic) | 1 | DDX23-related_developmental_disorder_(monoallelic) |
| ARHGAP35-related_developmental_disorder_(monoallelic) | 1 | ARHGAP35-related_developmental_disorder_(monoallelic) |
| DPYSL5-related_developmental_disorder_(monoallelic) | 1 | DPYSL5-related_developmental_disorder_(monoallelic) |
| FBXW7-related_developmental_disorder_(monoallelic) | 1 | FBXW7-related_developmental_disorder_(monoallelic) |
| GNB2-related_developmental_disorder_(monoallelic) | 1 | GNB2-related_developmental_disorder_(monoallelic) |
| EEF2-related_developmental_disorder_(monoallelic) | 1 | EEF2-related_developmental_disorder_(monoallelic) |
| MAST1-related_developmental_disorder_(monoallelic) | 1 | MAST1-related_developmental_disorder_(monoallelic) |
| GIGYF1-related_developmental_disorder_(monoallelic) | 1 | GIGYF1-related_developmental_disorder_(monoallelic) |
| RAB14-related_developmental_disorder_(monoallelic) | 1 | RAB14-related_developmental_disorder_(monoallelic) |
| GRIA2-related_developmental_disorder_(monoallelic) | 1 | GRIA2-related_developmental_disorder_(monoallelic) |
| HIST1H2AC-related_developmental_disorder_(monoallelic) | 1 | HIST1H2AC-related_developmental_disorder_(monoallelic) |
| HNRNPD-related_developmental_disorder_(monoallelic) | 1 | HNRNPD-related_developmental_disorder_(monoallelic) |
| U2AF2-related_neurodevelopmental_disorder | 1 | U2AF2-related_neurodevelopmental_disorder |
| ADCY5-related_developmental_disorder_(monoallelic) | 1 | ADCY5-related_developmental_disorder_(monoallelic) |
| MIB1-related_developmental_disorder_(monoallelic) | 1 | MIB1-related_developmental_disorder_(monoallelic) |
| MSL2-related_developmental_disorder_(monoallelic) | 1 | MSL2-related_developmental_disorder_(monoallelic) |
| ODC1-related_neurodevelopmental_disorder | 1 | ODC1-related_neurodevelopmental_disorder |
| PCBP2-related_developmental_disorder_(monoallelic) | 1 | PCBP2-related_developmental_disorder_(monoallelic) |
| ATP6V0A1-related_developmental_disorder_(monoallelic) | 1 | ATP6V0A1-related_developmental_disorder_(monoallelic) |
| KCNK3-associated_developmental_delay_with_sleep_apnea_ | 1 | KCNK3-associated_developmental_delay_with_sleep_apnea_ |
| SATB1-related_developmental_disorder_(monoallelic) | 1 | SATB1-related_developmental_disorder_(monoallelic) |
| SPEN-related_developmental_disorder_(monoallelic) | 1 | SPEN-related_developmental_disorder_(monoallelic) |
| SPTBN1-related_developmental_disorder_(monoallelic) | 1 | SPTBN1-related_developmental_disorder_(monoallelic) |
| SRRM2-related_developmental_disorder_(monoallelic) | 1 | SRRM2-related_developmental_disorder_(monoallelic) |
| SRSF1-related_developmental_disorder_(monoallelic) | 1 | SRSF1-related_developmental_disorder_(monoallelic) |
| PSMC5-related_developmental_disorder_(monoallelic) | 1 | PSMC5-related_developmental_disorder_(monoallelic) |
| TRPM3-related_developmental_disorder_(monoallelic) | 1 | TRPM3-related_developmental_disorder_(monoallelic) |
| UPF1-related_developmental_disorder_(monoallelic) | 1 | UPF1-related_developmental_disorder_(monoallelic) |
| ZFHX3-related_neurodevelopmental_disorder | 1 | ZFHX3-related_neurodevelopmental_disorder |
| ZFHX4-related_developmental_disorder_(monoallelic) | 1 | ZFHX4-related_developmental_disorder_(monoallelic) |
| ZMYM2-related_developmental_disorder_(monoallelic) | 1 | ZMYM2-related_developmental_disorder_(monoallelic) |
| ZNF148-related_neurodevelopmental_disorder | 1 | ZNF148-related_neurodevelopmental_disorder |
| ARHGEF9-related_developmental_disorder_(X-linked_dominant) | 1 | ARHGEF9-related_developmental_disorder_(X-linked_dominant) |
| CACNA1G-related_developmental_disorder_(monoallelic) | 1 | CACNA1G-related_developmental_disorder_(monoallelic) |
| CUL3-related_developmental_disorder_(monoallelic) | 1 | CUL3-related_developmental_disorder_(monoallelic) |
| KDM6B-related_developmental_disorder_(monoallelic) | 1 | KDM6B-related_developmental_disorder_(monoallelic) |
| USP7-related_developmental_disorder_(monoallelic) | 1 | USP7-related_developmental_disorder_(monoallelic) |
| Autosomal-Recessive_Neurological_Disease_with_Cerebellar_Atrophy_and_Lysosomal_Dysfunction | 1 | Autosomal-Recessive_Neurological_Disease_with_Cerebellar_Atrophy_and_Lysosomal_Dysfunction |
| CHRNA3-related_congenital_anomalies_of_the_kidney_and_urinary_tract | 1 | CHRNA3-related_congenital_anomalies_of_the_kidney_and_urinary_tract |
| Posterior_Amelia_with_Pelvic_and_Pulmonary_Hypoplasia | 1 | Posterior_Amelia_with_Pelvic_and_Pulmonary_Hypoplasia |
| Intellectual_Disability_with_or_without_Epileptic_Encephalopathy,_activating | 1 | Intellectual_Disability_with_or_without_Epileptic_Encephalopathy,_activating |
| GRID2-related_cerebellar_ataxia,_biallelic | 1 | GRID2-related_cerebellar_ataxia,_biallelic |
| GRID2-related_cerebellar_ataxia,_monoallelic | 1 | GRID2-related_cerebellar_ataxia,_monoallelic |
| NDNF-related_Congenital_Hypogonadotrophic_Hypogonadism | 1 | NDNF-related_Congenital_Hypogonadotrophic_Hypogonadism |
| NDUFAF8-related_Leigh_Syndrome | 1 | NDUFAF8-related_Leigh_Syndrome |
| PPP1R12A-related_Holoprosencephaly_Spectrum_and_Urogenital_Malformations | 1 | PPP1R12A-related_Holoprosencephaly_Spectrum_and_Urogenital_Malformations |
| NADSYN1-related_Congenital_NAD_Deficiency_Disorder | 1 | NADSYN1-related_Congenital_NAD_Deficiency_Disorder |
| Steel_Syndrome | 1 | Steel_Syndrome |
| Shukla-Vernon_Syndrome | 1 | Shukla-Vernon_Syndrome |
| ANK2-related_neurodevelopmental_disorder | 1 | ANK2-related_neurodevelopmental_disorder |
| Mitochondrial_Complex_III_Deficiency,_Cardiomyopathy,_and_Alopecia_Totalis | 1 | Mitochondrial_Complex_III_Deficiency,_Cardiomyopathy,_and_Alopecia_Totalis |
| Endosteal_Hyperostosis_and_Oligodontia | 1 | Endosteal_Hyperostosis_and_Oligodontia |
| UGP2_Epileptic_Encephalopathy | 1 | UGP2_Epileptic_Encephalopathy |
| TTC12-related_Primary_Ciliary_Dyskinesia | 1 | TTC12-related_Primary_Ciliary_Dyskinesia |
| TET3_DNA_Demethylation_Disorder_biallelic | 1 | TET3_DNA_Demethylation_Disorder_biallelic |
| TET3_DNA_Demethylation_Disorder_monoallelic | 1 | TET3_DNA_Demethylation_Disorder_monoallelic |
| RALGAPA1-related_neurodevelopmental_disorder | 1 | RALGAPA1-related_neurodevelopmental_disorder |
| TKFC-related_Cataracts_and_Multisystem_Disease | 1 | TKFC-related_Cataracts_and_Multisystem_Disease |
| CDC42BPB-related_Neurodevelopmental_Disorder | 1 | CDC42BPB-related_Neurodevelopmental_Disorder |
| CDC42-related_Neurodevelopmental_Disorder | 1 | CDC42-related_Neurodevelopmental_Disorder |
| RALA-related_Neurodevelopmental_Syndrome | 1 | RALA-related_Neurodevelopmental_Syndrome |
| SLC5A6-related_Neurodevelopmental_Disorder | 1 | SLC5A6-related_Neurodevelopmental_Disorder |
| SPOP-related_Neurodevelopmental_Disorder,_gain_of_function | 1 | SPOP-related_Neurodevelopmental_Disorder,_gain_of_function |
| SPOP-related_Neurodevelopmental_Disorder,_dominant_negative | 1 | SPOP-related_Neurodevelopmental_Disorder,_dominant_negative |
| METTL23-related_Intellectual_Disability | 1 | METTL23-related_Intellectual_Disability |
| RARS1_related_hypomyelinating_leukodystrophy | 1 | RARS1_related_hypomyelinating_leukodystrophy |
| TMEM106B_related_hypomyelinating_leukodystrophy | 1 | TMEM106B_related_hypomyelinating_leukodystrophy |
| POLR1C-related_Leukodystrophy | 1 | POLR1C-related_Leukodystrophy |
| SLC25A1-related_Neurometabolic_Disorder | 1 | SLC25A1-related_Neurometabolic_Disorder |
| ADARB1-associated_Microcephaly,_Intellectual_Disability,_and_Seizures | 1 | ADARB1-associated_Microcephaly,_Intellectual_Disability,_and_Seizures |
| PIGK-associated_Neurodevelopmental_Syndrome | 1 | PIGK-associated_Neurodevelopmental_Syndrome |
| NRROS-related_Infantile-Onset_Neurodegeneration_with_Intracranial_Calcification | 1 | NRROS-related_Infantile-Onset_Neurodegeneration_with_Intracranial_Calcification |
| EIF2AK1-associated_Neurodevelopmental_Syndrome | 1 | EIF2AK1-associated_Neurodevelopmental_Syndrome |
| EIF2AK2-associated_Developmental_Delay,_Leukoencephalopathy,_and_Neurologic_Decompensation | 1 | EIF2AK2-associated_Developmental_Delay,_Leukoencephalopathy,_and_Neurologic_Decompensation |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_70 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_70 |
| OCLN-associated_Band-like_Calcification_with_Simplified_Gyration_and_Polymicrogyria | 1 | OCLN-associated_Band-like_Calcification_with_Simplified_Gyration_and_Polymicrogyria |
| KATNB1-_associated_COMPLEX_CEREBRAL_MALFORMATIONS | 1 | KATNB1-_associated_COMPLEX_CEREBRAL_MALFORMATIONS |
| GLYCOSYLPHOSPHATIDYLINOSITOL_BIOSYNTHESIS_DEFECT_17 | 1 | GLYCOSYLPHOSPHATIDYLINOSITOL_BIOSYNTHESIS_DEFECT_17 |
| MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_1 | 1 | MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_1 |
| MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_2 | 1 | MYOPATHY,_LACTIC_ACIDOSIS,_AND_SIDEROBLASTIC_ANEMIA_2 |
| CCDC32-associated_neurodevelopmental_syndrome | 1 | CCDC32-associated_neurodevelopmental_syndrome |
| KMT2D_multiple_malformations_disorder | 1 | KMT2D_multiple_malformations_disorder |
| Basel-Vanagaite-Smirin-Yosef_Syndrome | 1 | Basel-Vanagaite-Smirin-Yosef_Syndrome |
| ARNT2-associated_hypopituitarism,_post-natal_microcephaly,_visual_and_renal_anomalies | 1 | ARNT2-associated_hypopituitarism,_post-natal_microcephaly,_visual_and_renal_anomalies |
| SIAH1-associated_neurodevelopmental_disorder | 1 | SIAH1-associated_neurodevelopmental_disorder |
| TTC5-associated_neurodevelopmental_disorder | 1 | TTC5-associated_neurodevelopmental_disorder |
| CDK19-associated_Intellectual_Disability_and_Epileptic_Encephalopathy | 1 | CDK19-associated_Intellectual_Disability_and_Epileptic_Encephalopathy |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IId | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_IId |
| MAU2_neurodevelopmental_disorder | 1 | MAU2_neurodevelopmental_disorder |
| JABERI-ELAHI_SYNDROME | 1 | JABERI-ELAHI_SYNDROME |
| TRIM8-related_neurodevelopmental_disorder | 1 | TRIM8-related_neurodevelopmental_disorder |
| SMO-related_developmental_disorder | 1 | SMO-related_developmental_disorder |
| SOX6-related_neurodevelopmental_syndrome | 1 | SOX6-related_neurodevelopmental_syndrome |
| RIMS2_Syndromic_Congenital_Cone-Rod_Synaptic_Disease | 1 | RIMS2_Syndromic_Congenital_Cone-Rod_Synaptic_Disease |
| KIF3B-related_ciliopathy | 1 | KIF3B-related_ciliopathy |
| HNRNPH1-related_neurodevelopmental_disorder | 1 | HNRNPH1-related_neurodevelopmental_disorder |
| MYOPATHY,_CONGENITAL,_WITH_FAST-TWITCH_(TYPE_II)_FIBER_ATROPHY | 1 | MYOPATHY,_CONGENITAL,_WITH_FAST-TWITCH_(TYPE_II)_FIBER_ATROPHY |
| NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_2 | 1 | NEUROPATHY,_CONGENITAL_HYPOMYELINATING,_2 |
| ABAT-related_GABA-transaminase_Deficiency | 1 | ABAT-related_GABA-transaminase_Deficiency |
| PERIVENTRICULAR_NODULAR_HETEROTOPIA_8 | 1 | PERIVENTRICULAR_NODULAR_HETEROTOPIA_8 |
| EPILEPTIC_ENCEPHALOPATHY,_INFANTILE_OR_EARLY_CHILDHOOD,_3 | 1 | EPILEPTIC_ENCEPHALOPATHY,_INFANTILE_OR_EARLY_CHILDHOOD,_3 |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER_59 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER_59 |
| HYPOPARATHYROIDISM,_SENSORINEURAL_DEAFNESS,_AND_RENAL_DISEASE | 1 | HYPOPARATHYROIDISM,_SENSORINEURAL_DEAFNESS,_AND_RENAL_DISEASE |
| KLF7-related_developmental_disorder | 1 | KLF7-related_developmental_disorder |
| NOONAN_SYNDROME_10 | 1 | NOONAN_SYNDROME_10 |
| NEURODEGENERATION,_CHILDHOOD-ONSET,_WITH_CEREBELLAR_ATROPHY | 1 | NEURODEGENERATION,_CHILDHOOD-ONSET,_WITH_CEREBELLAR_ATROPHY |
| GLOBAL_DEVELOPMENTAL_DELAY_WITH_OR_WITHOUT_IMPAIRED_INTELLECTUAL_DEVELOPMENT | 1 | GLOBAL_DEVELOPMENTAL_DELAY_WITH_OR_WITHOUT_IMPAIRED_INTELLECTUAL_DEVELOPMENT |
| EIF2B4-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER | 1 | EIF2B4-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER |
| EIF2B5-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER | 1 | EIF2B5-RELATED_LEUKOENCEPHALOPATHY_WITH_VANISHING_WHITE_MATTER |
| DIARRHEA_5,_WITH_TUFTING_ENTEROPATHY,_CONGENITAL | 1 | DIARRHEA_5,_WITH_TUFTING_ENTEROPATHY,_CONGENITAL |
| NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY,_CATARACTS,_AND_RENAL_ABNORMALITIES | 1 | NEURODEVELOPMENTAL_DISORDER_WITH_MICROCEPHALY,_CATARACTS,_AND_RENAL_ABNORMALITIES |
| MACROCEPHALY,_DYSMORPHIC_FACIES,_AND_PSYCHOMOTOR_RETARDATION | 1 | MACROCEPHALY,_DYSMORPHIC_FACIES,_AND_PSYCHOMOTOR_RETARDATION |
| NEMALINE_MYOPATHY_10 | 1 | NEMALINE_MYOPATHY_10 |
| ENCEPHALOPATHY_DUE_TO_DEFECTIVE_MITOCHONDRIAL_AND_PEROXISOMAL_FISSION_2 | 1 | ENCEPHALOPATHY_DUE_TO_DEFECTIVE_MITOCHONDRIAL_AND_PEROXISOMAL_FISSION_2 |
| NOONAN_SYNDROME_11 | 1 | NOONAN_SYNDROME_11 |
| MYBPC1-related_arthrogryposis_and_myopathy | 1 | MYBPC1-related_arthrogryposis_and_myopathy |
| LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_4 | 1 | LETHAL_CONGENITAL_CONTRACTURE_SYNDROME_4 |
| KLIPPEL-FEIL_SYNDROME_4,_AUTOSOMAL_RECESSIVE,_WITH_NEMALINE_MYOPATHY_AND_FACIAL_DYSMORPHISM | 1 | KLIPPEL-FEIL_SYNDROME_4,_AUTOSOMAL_RECESSIVE,_WITH_NEMALINE_MYOPATHY_AND_FACIAL_DYSMORPHISM |
| DIENCEPHALIC-MESENCEPHALIC_JUNCTION_DYSPLASIA_SYNDROME_1 | 1 | DIENCEPHALIC-MESENCEPHALIC_JUNCTION_DYSPLASIA_SYNDROME_1 |
| JOUBERT_SYNDROME_33 | 1 | JOUBERT_SYNDROME_33 |
| PNPLA6-related_Disorder | 1 | PNPLA6-related_Disorder |
| NEUROLOGIC,_ENDOCRINE,_AND_PANCREATIC_DISEASE,_MULTISYSTEM,_INFANTILE-ONSET | 1 | NEUROLOGIC,_ENDOCRINE,_AND_PANCREATIC_DISEASE,_MULTISYSTEM,_INFANTILE-ONSET |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED,_SYNDROMIC,_35 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_X-LINKED,_SYNDROMIC,_35 |
| DIAMOND-BLACKFAN_ANEMIA_11 | 1 | DIAMOND-BLACKFAN_ANEMIA_11 |
| DIAMOND-BLACKFAN_ANEMIA_10 | 1 | DIAMOND-BLACKFAN_ANEMIA_10 |
| SELENON-related_myopathy | 1 | SELENON-related_myopathy |
| NEURODEVELOPMENTAL_DISORDER_WITH_HYPOTONIA,_NEUROPATHY,_AND_DEAFNESS | 1 | NEURODEVELOPMENTAL_DISORDER_WITH_HYPOTONIA,_NEUROPATHY,_AND_DEAFNESS |
| INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_68 | 1 | INTELLECTUAL_DEVELOPMENTAL_DISORDER,_AUTOSOMAL_RECESSIVE_68 |
| WOLFRAM_SYNDROME_1 | 1 | WOLFRAM_SYNDROME_1 |
| Wolfram-like_syndrome,_autosomal_dominant | 1 | Wolfram-like_syndrome,_autosomal_dominant |
| ZNF142-related_neurodevelopmental_disorder | 1 | ZNF142-related_neurodevelopmental_disorder |
| CNOT1-related_neurodevelopmental_disorder | 1 | CNOT1-related_neurodevelopmental_disorder |
| SUPT16H-related_neurodevelopmental_disorder | 1 | SUPT16H-related_neurodevelopmental_disorder |
| KOSAKI_OVERGROWTH_SYNDROME | 1 | KOSAKI_OVERGROWTH_SYNDROME |
| TBC1D2B-related_neurodevelopmental_disorder | 1 | TBC1D2B-related_neurodevelopmental_disorder |
| TFE3-related_intellectual_disability_with_pigmentary_mosaicism_and_coarse_features | 1 | TFE3-related_intellectual_disability_with_pigmentary_mosaicism_and_coarse_features |
| DSP-related_developmental_disorder | 1 | DSP-related_developmental_disorder |
| MFN2-related_developmental_disorder | 1 | MFN2-related_developmental_disorder |
| MMGT1-related_developmental_disorder | 1 | MMGT1-related_developmental_disorder |
| PRKAR1B-related_developmental_disorder | 1 | PRKAR1B-related_developmental_disorder |
| MIGRAINE,_FAMILIAL_HEMIPLEGIC,_ATP1A2-related | 1 | MIGRAINE,_FAMILIAL_HEMIPLEGIC,_ATP1A2-related |
| TANC2-related_neurodevelopmental_and_psychiatric_disorders | 1 | TANC2-related_neurodevelopmental_and_psychiatric_disorders |
| CHD1-related_neurodevelopment_disorder | 1 | CHD1-related_neurodevelopment_disorder |
| RBFOX1-related_neurodevelopmental_disorder | 1 | RBFOX1-related_neurodevelopmental_disorder |
| CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia | 1 | CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia |
| CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia;_autosomal_recessive_form | 1 | CNNM2-related_neurodevelopmental_disorder_with_hypomagnesemia;_autosomal_recessive_form |
| CTNND2-related_neurodevelopmental_disorder | 1 | CTNND2-related_neurodevelopmental_disorder |
| FGF14-related_episodic_ataxia | 1 | FGF14-related_episodic_ataxia |
| ZNF407-related_Neurodevelopmental_Disorder | 1 | ZNF407-related_Neurodevelopmental_Disorder |
| TOGARAM1-related_ciliopathy | 1 | TOGARAM1-related_ciliopathy |
| MADD-related_developmental_disorder | 1 | MADD-related_developmental_disorder |
| NARS1-related_Neurodevelopmental_Disorder | 1 | NARS1-related_Neurodevelopmental_Disorder |
| NARS1-related_Neurodevelopmental_Disorder_ | 1 | NARS1-related_Neurodevelopmental_Disorder_ |
| MYLPF_arthrogryposis_(biallelic) | 1 | MYLPF_arthrogryposis_(biallelic) |
| MYLPF_arthrogryposis_(monoallelic) | 1 | MYLPF_arthrogryposis_(monoallelic) |
| HPDL_Neurodegenerative_Disease | 1 | HPDL_Neurodegenerative_Disease |
| Renal_hypodysplasia/aplasia_3 | 1 | Renal_hypodysplasia/aplasia_3 |
| NDUFA8-related_developmental_disorder | 1 | NDUFA8-related_developmental_disorder |
| ZBTB7A-associated_developmental_disorder | 1 | ZBTB7A-associated_developmental_disorder |
| Intellectual_developmental_disorder,_X-linked_108 | 1 | Intellectual_developmental_disorder,_X-linked_108 |
| MAPK1-related_Neurodevelopmental_Disorder | 1 | MAPK1-related_Neurodevelopmental_Disorder |
| SCAF4-related_Neurodevelopmental_Disorder | 1 | SCAF4-related_Neurodevelopmental_Disorder |
| KAT5-related_Neurodevelopmental_Syndrome | 1 | KAT5-related_Neurodevelopmental_Syndrome |
| Asparagine_synthetase_deficiency | 1 | Asparagine_synthetase_deficiency |
| Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_12 | 1 | Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_12 |
| DLG5-associated_developmental_disorder_(monoallelic) | 1 | DLG5-associated_developmental_disorder_(monoallelic) |
| DLG5-associated_developmental_disorder_(biallelic) | 1 | DLG5-associated_developmental_disorder_(biallelic) |
| PPP1R21-related_neurodevelopmental_disorder | 1 | PPP1R21-related_neurodevelopmental_disorder |
| Neurodevelopmental_disorder_with_epilepsy,_spasticity,_and_brain_atrophy | 1 | Neurodevelopmental_disorder_with_epilepsy,_spasticity,_and_brain_atrophy |
| SHMT2-related_neurodevelopmental_syndrome | 1 | SHMT2-related_neurodevelopmental_syndrome |
| LMNB1-associated_developmental_disorder | 1 | LMNB1-associated_developmental_disorder |
| TNRC6B-related_neurodevelopmental_disorder | 1 | TNRC6B-related_neurodevelopmental_disorder |
| SYT2-related_congenital_onset_presynaptic_myasthenic_syndrome | 1 | SYT2-related_congenital_onset_presynaptic_myasthenic_syndrome |
| PPP1R13L-related_dilated_cardiomyopathy | 1 | PPP1R13L-related_dilated_cardiomyopathy |
| RAP1B-related_developmental_disorder | 1 | RAP1B-related_developmental_disorder |
| PRIM1-related_Primordial_Dwarfism | 1 | PRIM1-related_Primordial_Dwarfism |
| LMNB2-related_Primary_Microcephaly | 1 | LMNB2-related_Primary_Microcephaly |
| NUDT2-related_Developmental_Disorder | 1 | NUDT2-related_Developmental_Disorder |
| JARID2-related_Neurodevelopmental_Disorder | 1 | JARID2-related_Neurodevelopmental_Disorder |
| FOXP4-related_Developmental_Disorder | 1 | FOXP4-related_Developmental_Disorder |
| ATP6V0C-related_Developmental_Disorder | 1 | ATP6V0C-related_Developmental_Disorder |
| NAPB-related_Neurodevelopmental_Disorder | 1 | NAPB-related_Neurodevelopmental_Disorder |
| NCKAP1-related_Neurodevelopmental_Disorder | 1 | NCKAP1-related_Neurodevelopmental_Disorder |
| PRKACA-related_Multiple_Congenital_Malformation_Syndrome | 1 | PRKACA-related_Multiple_Congenital_Malformation_Syndrome |
| PRKACB-related_Multiple_Congenital_Malformation_Syndrome | 1 | PRKACB-related_Multiple_Congenital_Malformation_Syndrome |
| KDELR2-related_Osteogenesis_Imperfecta | 1 | KDELR2-related_Osteogenesis_Imperfecta |
| COX16-related_Developmental_Disorder | 1 | COX16-related_Developmental_Disorder |
| KIDINS220-related_Developmental_Disorder,_biallelic | 1 | KIDINS220-related_Developmental_Disorder,_biallelic |
| Hypotonia,_hypoventilation,_impaired_intellectual_development,_dysautonomia,_epilepsy,_and_eye_abnormalities | 1 | Hypotonia,_hypoventilation,_impaired_intellectual_development,_dysautonomia,_epilepsy,_and_eye_abnormalities |
| PPIL1-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly | 1 | PPIL1-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly |
| CDC40-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly | 1 | CDC40-related_Neurodegenerative_Pontocerebellar_Hypoplasia_with_Microcephaly |
| MED12-related_developmental_disorder | 1 | MED12-related_developmental_disorder |
| HS2ST1-related_Developmental_Disorder | 1 | HS2ST1-related_Developmental_Disorder |
| CLCN6-related_Developmental_Disorder | 1 | CLCN6-related_Developmental_Disorder |
| UNC45B-associated_Progressive_Myopathy_with_Eccentric_Cores | 1 | UNC45B-associated_Progressive_Myopathy_with_Eccentric_Cores |
| BICRA-related_Developmental_Disorder | 1 | BICRA-related_Developmental_Disorder |
| CIMDAG_Syndrome,_monoallelic | 1 | CIMDAG_Syndrome,_monoallelic |
| CIMDAG_Syndrome,_biallelic | 1 | CIMDAG_Syndrome,_biallelic |
| KDM4B-related_Developmental_Disorder | 1 | KDM4B-related_Developmental_Disorder |
| SMG8-related_Developmental_Disorder | 1 | SMG8-related_Developmental_Disorder |
| FBXO28-related_developmental_and_epileptic_encephalopathy_with_profound_intellectual_disability | 1 | FBXO28-related_developmental_and_epileptic_encephalopathy_with_profound_intellectual_disability |
| PIDD1-related_neurodevelopmental_disorder | 1 | PIDD1-related_neurodevelopmental_disorder |
| HIRA-related_neurodevelopmental_disorder | 1 | HIRA-related_neurodevelopmental_disorder |
| FGF13-related_neurodevelopmental_disorder_(hemizygous) | 1 | FGF13-related_neurodevelopmental_disorder_(hemizygous) |
| FGF13-related_neurodevelopmental_disorder_(X-linked_dominant) | 1 | FGF13-related_neurodevelopmental_disorder_(X-linked_dominant) |
| MED27-related_neurodevelopmental_disorder | 1 | MED27-related_neurodevelopmental_disorder |
| SCUBE3-related_developmental_disorder | 1 | SCUBE3-related_developmental_disorder |
| POLR3B-related_neurodevelopmental_disorder | 1 | POLR3B-related_neurodevelopmental_disorder |
| CELF2-related_neurodevelopmental_disorder | 1 | CELF2-related_neurodevelopmental_disorder |
| TMEM251-related_skeletal_dysplasia | 1 | TMEM251-related_skeletal_dysplasia |
| Polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy | 1 | Polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy |
| EIF5A-related_craniofacial-neurodevelopmental_disorder | 1 | EIF5A-related_craniofacial-neurodevelopmental_disorder |
| EMC10-related_neurodevelopmental_disorder | 1 | EMC10-related_neurodevelopmental_disorder |
| BRF1-related_cerebellofaciodental_syndrome | 1 | BRF1-related_cerebellofaciodental_syndrome |
| TPP2-related_immune_deficiency,_autoimmune_disease_and_intellectual_disability | 1 | TPP2-related_immune_deficiency,_autoimmune_disease_and_intellectual_disability |
| PRDM15-related_renal_and_neurodevelopmental_disorder | 1 | PRDM15-related_renal_and_neurodevelopmental_disorder |
| CHRNB1-related_congenital_myaesthenia,_biallelic | 1 | CHRNB1-related_congenital_myaesthenia,_biallelic |
| CHRNB1-related_congenital_myaesthenia,_monoallelic | 1 | CHRNB1-related_congenital_myaesthenia,_monoallelic |
| SEMA3A-related_skeletal_dysplasia | 1 | SEMA3A-related_skeletal_dysplasia |
| COPB1-related_severe_intellectual_disability_syndrome_with_cataracts_and_variable_microcephaly | 1 | COPB1-related_severe_intellectual_disability_syndrome_with_cataracts_and_variable_microcephaly |
| MYSM1-related_congenital_bone_marrow_failure | 1 | MYSM1-related_congenital_bone_marrow_failure |
| NFE2L2-related_leukoencephalopathy,_immune_deficiency_and_hypohomocysteinaemia | 1 | NFE2L2-related_leukoencephalopathy,_immune_deficiency_and_hypohomocysteinaemia |
| SARS2-related_hyperuricemia,_pulmonary_hypertension,_renal_failure_and_alkalosis | 1 | SARS2-related_hyperuricemia,_pulmonary_hypertension,_renal_failure_and_alkalosis |
| HACD1-related_congenital_myopathy | 1 | HACD1-related_congenital_myopathy |
| NCDN-associated_neurodevelopmental_disorder_with_seizures_(biallelic) | 1 | NCDN-associated_neurodevelopmental_disorder_with_seizures_(biallelic) |
| NCDN-associated_neurodevelopmental_disorder_with_seizures_(monoallelic) | 1 | NCDN-associated_neurodevelopmental_disorder_with_seizures_(monoallelic) |
| DDB1-associated_neurodevelopmental_syndrome | 1 | DDB1-associated_neurodevelopmental_syndrome |
| ANO1-associated_intestinal_disease | 1 | ANO1-associated_intestinal_disease |
| NDUFB7-associated_lactic_acidosis_and_hypertrophic_cardiomyopathy | 1 | NDUFB7-associated_lactic_acidosis_and_hypertrophic_cardiomyopathy |
| UBE4A-associated_neurodevelopmental_disorder | 1 | UBE4A-associated_neurodevelopmental_disorder |
| MAPKAPK5-associated_syndrome_with_synpolydactyly | 1 | MAPKAPK5-associated_syndrome_with_synpolydactyly |
| CSDE1-associated_intellectual_disability_and_autism | 1 | CSDE1-associated_intellectual_disability_and_autism |
| ANKRD17-associated_neurodevelopmental_disorder | 1 | ANKRD17-associated_neurodevelopmental_disorder |
| CHD5-associated_neurodevelopmental_disorder_with_intellectual_disability,_speech_delay_and_epilepsy | 1 | CHD5-associated_neurodevelopmental_disorder_with_intellectual_disability,_speech_delay_and_epilepsy |
| GEMIN5-associated_neurodevelopmental_disorder_with_cerebellar_atrophy_and_motor_dysfunction | 1 | GEMIN5-associated_neurodevelopmental_disorder_with_cerebellar_atrophy_and_motor_dysfunction |
| SLC25A42-associated_metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression | 1 | SLC25A42-associated_metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression |
| COPB2-associated_developmental_delay_and_microcephaly | 1 | COPB2-associated_developmental_delay_and_microcephaly |
| PLXNA1-associated_neurodevelopmental_disorder_(biallelic) | 1 | PLXNA1-associated_neurodevelopmental_disorder_(biallelic) |
| PLXNA1-associated_neurodevelopmental_disorder_with_seizures_(monoallelic) | 1 | PLXNA1-associated_neurodevelopmental_disorder_with_seizures_(monoallelic) |
| MT-TL1-associated_mitochondrial_disorder | 1 | MT-TL1-associated_mitochondrial_disorder |
| TRAPPC10-associated_intellectual_disability | 1 | TRAPPC10-associated_intellectual_disability |
| PI4KA-associated_polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis | 1 | PI4KA-associated_polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis |
| GRIA1-related_neurodevelopmental_disorder | 1 | GRIA1-related_neurodevelopmental_disorder |
| TNNT3-associated_congenital_myopathy_(biallelic) | 1 | TNNT3-associated_congenital_myopathy_(biallelic) |
| Retinitis_pigmentosa_and_erythrocytic_microcytosis | 1 | Retinitis_pigmentosa_and_erythrocytic_microcytosis |
| TMEM240-associated_spinocerebellar_ataxia_and_intellectual_disability | 1 | TMEM240-associated_spinocerebellar_ataxia_and_intellectual_disability |
| STAC3-associated_congenital_myopathy_and_malignant_hyperthermia | 1 | STAC3-associated_congenital_myopathy_and_malignant_hyperthermia |
| SOS2_associated_Noonan_syndrome | 1 | SOS2_associated_Noonan_syndrome |
| NDUFB3-associated_mitochondrial_complex_I_deficiency | 1 | NDUFB3-associated_mitochondrial_complex_I_deficiency |
| KIF5A-associated_severe_neonatal_myoclonus | 1 | KIF5A-associated_severe_neonatal_myoclonus |
| GBE1-associated_Glycogen_storage_disease_IV | 1 | GBE1-associated_Glycogen_storage_disease_IV |
| COL6A2-related_Ullrich_congenital_muscular_dystrophy_(biallelic) | 1 | COL6A2-related_Ullrich_congenital_muscular_dystrophy_(biallelic) |
| COL6A2-related_Ullrich_congenital_muscular_dystrophy_(monoallelic) | 1 | COL6A2-related_Ullrich_congenital_muscular_dystrophy_(monoallelic) |
| ARFGEF1-related_intellectual_disability_and_epilepsy | 1 | ARFGEF1-related_intellectual_disability_and_epilepsy |
| JAG2-related_muscular_dystrophy | 1 | JAG2-related_muscular_dystrophy |
| SIN3B-related_syndromic_intellectual_disability_and_autism_spectrum_disorder | 1 | SIN3B-related_syndromic_intellectual_disability_and_autism_spectrum_disorder |
| SLC37A4-related_congenital_disorder_of_glycosylation_with_liver_dysfunction | 1 | SLC37A4-related_congenital_disorder_of_glycosylation_with_liver_dysfunction |
| SRCAP-related_Neurodevelopmental_Disorder | 1 | SRCAP-related_Neurodevelopmental_Disorder |
| BCAS3-related_neurodevelopmental_disorder_with_thinning_of_corpus_callosum_and_cerebellar_atrophy | 1 | BCAS3-related_neurodevelopmental_disorder_with_thinning_of_corpus_callosum_and_cerebellar_atrophy |
| LTBP1-related_cutis_laxa_and_craniosynostosis | 1 | LTBP1-related_cutis_laxa_and_craniosynostosis |
| IPO8-related_syndromic_thoracic_aortic_aneurysm | 1 | IPO8-related_syndromic_thoracic_aortic_aneurysm |
| PGM2L1-related_neurodevelopmental_disorder | 1 | PGM2L1-related_neurodevelopmental_disorder |
| HERC2-related_neurodevelopmental_disorder | 1 | HERC2-related_neurodevelopmental_disorder |
| ALDH1A2-related_diaphragmatic_hernia_and_pulmonary_hypoplasia | 1 | ALDH1A2-related_diaphragmatic_hernia_and_pulmonary_hypoplasia |
| POU4F1-related_ataxia,_intention_tremor,_and_hypotonia_syndrome | 1 | POU4F1-related_ataxia,_intention_tremor,_and_hypotonia_syndrome |
| NDUFA12-associated_mtochondrial_complex_I_deficiency | 1 | NDUFA12-associated_mtochondrial_complex_I_deficiency |
| THG1L-associated_cerebellar_ataxia | 1 | THG1L-associated_cerebellar_ataxia |
| RNPC3-associated_growth_hormone_deficiency_and_short_stature | 1 | RNPC3-associated_growth_hormone_deficiency_and_short_stature |
| PDIA6-associated_syndromic_neonatal_diabetes_and_asphyxiating_thoracic_dystrophy | 1 | PDIA6-associated_syndromic_neonatal_diabetes_and_asphyxiating_thoracic_dystrophy |
| UFSP2-associated_developmental_delay_and_epilepsy | 1 | UFSP2-associated_developmental_delay_and_epilepsy |
| IFT74-associated_ciliopathy | 1 | IFT74-associated_ciliopathy |
| ACBD5_deficiency | 1 | ACBD5_deficiency |
| AFG3L2-related_ataxia_and_seizures | 1 | AFG3L2-related_ataxia_and_seizures |
| GLRA1-related_hyperexplexia,_monoallelic | 1 | GLRA1-related_hyperexplexia,_monoallelic |
| GLRA1-related_hyperexplexia,_biallelic | 1 | GLRA1-related_hyperexplexia,_biallelic |
| GLRB-related_hyperexplexia,_monoallelic | 1 | GLRB-related_hyperexplexia,_monoallelic |
| GLRB-related_hyperexplexia,_biallelic | 1 | GLRB-related_hyperexplexia,_biallelic |
| GPHN-related_molybdenum_cofactor_deficiency | 1 | GPHN-related_molybdenum_cofactor_deficiency |
| KCNA1-related_epileptic_encephalopathy,_biallelic | 1 | KCNA1-related_epileptic_encephalopathy,_biallelic |
| KCNA1-related_epileptic_encephalopathy,_monoallelic | 1 | KCNA1-related_epileptic_encephalopathy,_monoallelic |
| KCNMA1-related_developmental_delay,_seizures_and_cerebellar_atrophy | 1 | KCNMA1-related_developmental_delay,_seizures_and_cerebellar_atrophy |
| PNPO-related_neonatal_encephalopathy_responsive_to_pyridoxal-5'-phosphate | 1 | PNPO-related_neonatal_encephalopathy_responsive_to_pyridoxal-5'-phosphate |
| OTOFACIOCERVICAL_SYNDROME | 1 | OTOFACIOCERVICAL_SYNDROME |
| Sulfite_oxidase_deficiency | 1 | Sulfite_oxidase_deficiency |
| NAA20-associated_developmental_delay_and_microcephaly | 1 | NAA20-associated_developmental_delay_and_microcephaly |
| CEP85L-associated_posterior-predominant_lissencephaly | 1 | CEP85L-associated_posterior-predominant_lissencephaly |
| NSRP1-associated_developmental_delay,_epilepsy_and_microcephaly | 1 | NSRP1-associated_developmental_delay,_epilepsy_and_microcephaly |
| WDR11-associated_intellectual_disability_and_microcephaly | 1 | WDR11-associated_intellectual_disability_and_microcephaly |
| NARS2-associated_oxidative_phosphorylation_deficiency | 1 | NARS2-associated_oxidative_phosphorylation_deficiency |
| PUS3-associated_neurodevelopmental_disorder_with_microcephaly_and_gray_sclerae | 1 | PUS3-associated_neurodevelopmental_disorder_with_microcephaly_and_gray_sclerae |
| ATG7-related_intellectual_disability_and_ataxia | 1 | ATG7-related_intellectual_disability_and_ataxia |
| TP73-related_ciliary_dyskinesia_and_lissencephaly | 1 | TP73-related_ciliary_dyskinesia_and_lissencephaly |
| AP1G1-related_intellectual_disability,_biallelic | 1 | AP1G1-related_intellectual_disability,_biallelic |
| AP1G1-related_intellectual_disability_and_epilepsy,_monoallelic | 1 | AP1G1-related_intellectual_disability_and_epilepsy,_monoallelic |
| EDEM3-related_congenital_disorder_of_glycosylation | 1 | EDEM3-related_congenital_disorder_of_glycosylation |
| CLCN3-related_Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities | 1 | CLCN3-related_Neurodevelopmental_disorder_with_seizures_and_brain_abnormalities |
| CLCN3-related_Neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities | 1 | CLCN3-related_Neurodevelopmental_disorder_with_hypotonia_and_brain_abnormalities |
| TNPO2-related_intellectual_disability | 1 | TNPO2-related_intellectual_disability |
| GRIK2-related_intellectual_disability_and_hypomyelination | 1 | GRIK2-related_intellectual_disability_and_hypomyelination |
| COPB2-related_developmental_delay_and_osteopenia | 1 | COPB2-related_developmental_delay_and_osteopenia |
| ZFYVE19-related_congenital_hepatic_fibrosis,_sclerosing_cholangiopathy_and_high-GGT_cholestasis | 1 | ZFYVE19-related_congenital_hepatic_fibrosis,_sclerosing_cholangiopathy_and_high-GGT_cholestasis |
| TRAPPC2L-related_Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis | 1 | TRAPPC2L-related_Encephalopathy,_progressive,_early-onset,_with_episodic_rhabdomyolysis |
| RNU12-related_CDAGS_syndrome | 1 | RNU12-related_CDAGS_syndrome |
| TMEM222-related_Neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities | 1 | TMEM222-related_Neurodevelopmental_disorder_with_motor_and_speech_delay_and_behavioral_abnormalities |
| ELFN1-related_intellectual_disability_and_epilepsy | 1 | ELFN1-related_intellectual_disability_and_epilepsy |
| OGDH-related_neurodevelopmental_disorder | 1 | OGDH-related_neurodevelopmental_disorder |
| RYR2-related_Catecholaminergic_polymorphic_ventricular_tachycardia_and_intellectual_disability | 1 | RYR2-related_Catecholaminergic_polymorphic_ventricular_tachycardia_and_intellectual_disability |
| HDAC4-related_intellectual_disability | 1 | HDAC4-related_intellectual_disability |
| 3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome | 1 | 3-methylglutaconic_aciduria_with_deafness,_encephalopathy,_and_Leigh-like_syndrome |
| YRDC-associated_nephrotic_syndrome_and_microcephaly | 1 | YRDC-associated_nephrotic_syndrome_and_microcephaly |
| SLC38A3-associated_epileptic_encephalopathy. | 1 | SLC38A3-associated_epileptic_encephalopathy. |
| GRIN1-associated_Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_recessive | 1 | GRIN1-associated_Neurodevelopmental_disorder_with_or_without_hyperkinetic_movements_and_seizures,_autosomal_recessive |
| ONECUT1-associated_neonatal_diabetes | 1 | ONECUT1-associated_neonatal_diabetes |
| WASHC5-associated_intellectual_disability,_congenital_cardiac_malformation_and_Dandy-Walker_malformation | 1 | WASHC5-associated_intellectual_disability,_congenital_cardiac_malformation_and_Dandy-Walker_malformation |
| LONP1-associated_congenital_diaphragmatic_hernia | 1 | LONP1-associated_congenital_diaphragmatic_hernia |
| SPATA5L1-associated_sensorineural_hearing_loss_and_intellectual_disability | 1 | SPATA5L1-associated_sensorineural_hearing_loss_and_intellectual_disability |
| ABHD16A-associated_spastic_paraplegia,_intellectual_disability_and_thin_corpus_callosum | 1 | ABHD16A-associated_spastic_paraplegia,_intellectual_disability_and_thin_corpus_callosum |
| LMBRD2-associated_intellectual_disability | 1 | LMBRD2-associated_intellectual_disability |
| CHRM1-associated_intellectual_disability | 1 | CHRM1-associated_intellectual_disability |
| HMGB1-related_intellectual_disability | 1 | HMGB1-related_intellectual_disability |
| NHLRC2-related_fibrosis,_neurodegeneration,_and_cerebral_angiomatosis | 1 | NHLRC2-related_fibrosis,_neurodegeneration,_and_cerebral_angiomatosis |
| RBBP8-related_microcephaly_and_intellectual_disability | 1 | RBBP8-related_microcephaly_and_intellectual_disability |
| GDF11-related_vertebral_hypersegmentation,_orofacial_anomalies_and_neurodevelopmental_disorder. | 1 | GDF11-related_vertebral_hypersegmentation,_orofacial_anomalies_and_neurodevelopmental_disorder. |
| ATP5F1A-related_failure_to_thrive,_hyperlactatemia_and_hyperammonemia | 1 | ATP5F1A-related_failure_to_thrive,_hyperlactatemia_and_hyperammonemia |
| ATP5F1A-related_mitochondrial_encephalopathy | 1 | ATP5F1A-related_mitochondrial_encephalopathy |
| AKT2-related_hypoinsulinemic_hypoglycemia_and_hemihypertrophy | 1 | AKT2-related_hypoinsulinemic_hypoglycemia_and_hemihypertrophy |
| RNF125-related_intellectual_disability_and_macrocephaly | 1 | RNF125-related_intellectual_disability_and_macrocephaly |
| ALKBH8-related_intellectual_disability,_microcephaly_and_seizures | 1 | ALKBH8-related_intellectual_disability,_microcephaly_and_seizures |
| FZR1-related_intellectual_disability_and_epilepsy | 1 | FZR1-related_intellectual_disability_and_epilepsy |
| SUFU-related_Joubert_and_congenital_ocular_motor_apraxia | 1 | SUFU-related_Joubert_and_congenital_ocular_motor_apraxia |
| SPRED2-related_Noonan_syndrome | 1 | SPRED2-related_Noonan_syndrome |
| STT3A-related_type_I_congenital_disorder_of_glycosylation_with_neuromusculoskeletal_disease | 1 | STT3A-related_type_I_congenital_disorder_of_glycosylation_with_neuromusculoskeletal_disease |
| PRORP-related_mitochondrial_disorder | 1 | PRORP-related_mitochondrial_disorder |
| GOLGA2-related_myopathy,_seizures_and_microcephaly | 1 | GOLGA2-related_myopathy,_seizures_and_microcephaly |
| PCDHGC4-related_neurodevelopmental_disorder_with_microcephaly_and_seizures | 1 | PCDHGC4-related_neurodevelopmental_disorder_with_microcephaly_and_seizures |
| ACER3-related_leukodystrophy | 1 | ACER3-related_leukodystrophy |
| HYAL2-related_syndrome_with_cleft_lip_and_palate_and_congenital_cardiac_anomalies | 1 | HYAL2-related_syndrome_with_cleft_lip_and_palate_and_congenital_cardiac_anomalies |
| DYNC2LI1-related_short-rib_polydactyly | 1 | DYNC2LI1-related_short-rib_polydactyly |
| OGDHL-related_neurodevelopmental_disorder_with_seizures,_hearing_loss_and_gait_ataxia | 1 | OGDHL-related_neurodevelopmental_disorder_with_seizures,_hearing_loss_and_gait_ataxia |
| SARS1-related_neurodevelopmental_disorder_with_microcephaly,_ataxia,_and_seizures | 1 | SARS1-related_neurodevelopmental_disorder_with_microcephaly,_ataxia,_and_seizures |
| CDH11-related_brachioskeletogenital_syndrome | 1 | CDH11-related_brachioskeletogenital_syndrome |
| SLIRP-related_mitochondrial_encephalomyopathy | 1 | SLIRP-related_mitochondrial_encephalomyopathy |
| PRKG2-related_acromesomelic_dysplasia_and_spondylometaphyseal_dysplasia | 1 | PRKG2-related_acromesomelic_dysplasia_and_spondylometaphyseal_dysplasia |
| ARPC4-related_microcephaly_and_developmental_delay | 1 | ARPC4-related_microcephaly_and_developmental_delay |
| CPSF3-associated_neurodevelopmental_disorder_with_seizures_and_microcephaly | 1 | CPSF3-associated_neurodevelopmental_disorder_with_seizures_and_microcephaly |
| GNE-associated_congenital_myopathy | 1 | GNE-associated_congenital_myopathy |
| GNE-associated_sialuria | 1 | GNE-associated_sialuria |
| MAN2C1-associated_neurodevelopmental_disorder_with_cerebral_malformations | 1 | MAN2C1-associated_neurodevelopmental_disorder_with_cerebral_malformations |
| BAP1-associated_neurodevelopmental_syndrome | 1 | BAP1-associated_neurodevelopmental_syndrome |
| Nemaline/Cap_myopathy | 1 | Nemaline/Cap_myopathy |
| THUMPD1_neurodevelopment_disorder | 1 | THUMPD1_neurodevelopment_disorder |
| NRCAM_neurodevelopmental_disorder_with_dysmorphic_features,_hypotonia_and_spasticity | 1 | NRCAM_neurodevelopmental_disorder_with_dysmorphic_features,_hypotonia_and_spasticity |
| RORB-epilepsy_and_neurodevelopmental_disorder | 1 | RORB-epilepsy_and_neurodevelopmental_disorder |
| DISTAL_ARTHROGRYPOSIS | 1 | DISTAL_ARTHROGRYPOSIS |
| H3F3A_associated_neurodevelopmental_disorder | 1 | H3F3A_associated_neurodevelopmental_disorder |
| H3F3B_associated_neurodevelopmental_disorder | 1 | H3F3B_associated_neurodevelopmental_disorder |
| Mitochondrial_complex_I_deficiency,_nuclear_type_7 | 1 | Mitochondrial_complex_I_deficiency,_nuclear_type_7 |
| HPE-related_disorder | 1 | HPE-related_disorder |
| DNAH14-related_Neurodevelopmental_disorder | 1 | DNAH14-related_Neurodevelopmental_disorder |
| MMP15-related_developmental_disorder | 1 | MMP15-related_developmental_disorder |
| DPH5-related_neurodevelopmental_disorder | 1 | DPH5-related_neurodevelopmental_disorder |
| Early-onset_oculopharyngeal_muscular_dystrophy | 1 | Early-onset_oculopharyngeal_muscular_dystrophy |
| PRDM13-related_olivopentocerebellar_hypoplasia_syndrome | 1 | PRDM13-related_olivopentocerebellar_hypoplasia_syndrome |
| ATP2B1-related_neurodevelopmental_disorder | 1 | ATP2B1-related_neurodevelopmental_disorder |
| NAD_deficiency_disorder | 1 | NAD_deficiency_disorder |
| Osteootohepatoenteric_syndrome | 1 | Osteootohepatoenteric_syndrome |
| CEROID_LIPOFUSCINOSIS,_NEURONAL,_10 | 1 | CEROID_LIPOFUSCINOSIS,_NEURONAL,_10 |
| CEROID_LIPOFUSCINOSIS,_NEURONAL,_5 | 1 | CEROID_LIPOFUSCINOSIS,_NEURONAL,_5 |
| CEROID_LIPOFUSCINOSIS,_NEURONAL,_1 | 1 | CEROID_LIPOFUSCINOSIS,_NEURONAL,_1 |
| Microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus | 1 | Microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus |
| External_Ophthalmoplegia,_Rib,_and_Vertebral_Anomalies | 1 | External_Ophthalmoplegia,_Rib,_and_Vertebral_Anomalies |
| BRUCK_SYNDROME_TYPE_1 | 1 | BRUCK_SYNDROME_TYPE_1 |
| WNK3-related_neurodevelopmental_disorder | 1 | WNK3-related_neurodevelopmental_disorder |
| PAN2-related_neurodevelopmental_disorder_with_multiple_congenital_anomalies | 1 | PAN2-related_neurodevelopmental_disorder_with_multiple_congenital_anomalies |
| CLDN5-related_neurodevelopmental_disorder | 1 | CLDN5-related_neurodevelopmental_disorder |
| PPFIBP1-related_neurodevelopmental_disorder | 1 | PPFIBP1-related_neurodevelopmental_disorder |
| ATP9A-related_neurodevelopmental_disorder | 1 | ATP9A-related_neurodevelopmental_disorder |
| SLC32A1-associated_developmental_and_epileptic_encephalopathy | 1 | SLC32A1-associated_developmental_and_epileptic_encephalopathy |
| TMEM63C-associated_hereditary_spastic_paraplegia | 1 | TMEM63C-associated_hereditary_spastic_paraplegia |
| ADAM22-associated_developmental_and_epileptic_encephalopathy | 1 | ADAM22-associated_developmental_and_epileptic_encephalopathy |
| CHKA-related_neurodevelopmental_disorder | 1 | CHKA-related_neurodevelopmental_disorder |
| DOHH-related_neurodevelopmental_disorder | 1 | DOHH-related_neurodevelopmental_disorder |
| FRA10AC1-related_neurodevelopmental_disorder | 1 | FRA10AC1-related_neurodevelopmental_disorder |
| PSMC1-related_neurodevelopmental_disorder | 1 | PSMC1-related_neurodevelopmental_disorder |
| TMEM218-associated_ciliopathy | 1 | TMEM218-associated_ciliopathy |
| PRDX3-associated_cerebellar_ataxia | 1 | PRDX3-associated_cerebellar_ataxia |
| TAF8-associated_neurodevelopmental_disorder | 1 | TAF8-associated_neurodevelopmental_disorder |
| MED11-associated_neurodevelopmental_disorder | 1 | MED11-associated_neurodevelopmental_disorder |
| TAF4-related_neurodevelopmental_disorder | 1 | TAF4-related_neurodevelopmental_disorder |
| UBAP2L-associated_neurodevelopmental_disorder | 1 | UBAP2L-associated_neurodevelopmental_disorder |
| GABBR1-associated_neurodevelopmental_disorder | 1 | GABBR1-associated_neurodevelopmental_disorder |
| MTSS2-associated_syndromic_intellectual_disability | 1 | MTSS2-associated_syndromic_intellectual_disability |
| GABRG1-associated_epileptic_encephalopathy | 1 | GABRG1-associated_epileptic_encephalopathy |
| RRM1-related_mitochondrial_DNA_depletion/deletions_syndrome | 1 | RRM1-related_mitochondrial_DNA_depletion/deletions_syndrome |
| ZMYND8-related_neurodevelopmental_disorder | 1 | ZMYND8-related_neurodevelopmental_disorder |
| TMEM163-related_hypomyelinating_leukodystrophy_ | 1 | TMEM163-related_hypomyelinating_leukodystrophy_ |
| GRM7-related_neurodevelopmental_disorder | 1 | GRM7-related_neurodevelopmental_disorder |
| TMEM147-related_developmental_disorder | 1 | TMEM147-related_developmental_disorder |
| PROSER1-related_developmental_disorder | 1 | PROSER1-related_developmental_disorder |
| BUB1-related_microcephaly_and_developmental_disorder | 1 | BUB1-related_microcephaly_and_developmental_disorder |
| Waardenburg_syndrome_type_3 | 1 | Waardenburg_syndrome_type_3 |
| IREB2-related_neurodevelopmental_disorder | 1 | IREB2-related_neurodevelopmental_disorder |
| SEMA6B-related_neurodevelopmental_disorder_ | 1 | SEMA6B-related_neurodevelopmental_disorder_ |
| HECW2-associated_neurodevelopmental_disorder | 1 | HECW2-associated_neurodevelopmental_disorder |
| Distal_hereditary_motor_neuropathy | 1 | Distal_hereditary_motor_neuropathy |
| WARS1-associated_neurodevelopmental_syndrome | 1 | WARS1-associated_neurodevelopmental_syndrome |
| SLC13A1-associated_hypersulfaturia_and_hyposulfatemia | 1 | SLC13A1-associated_hypersulfaturia_and_hyposulfatemia |
| MYCBP2-related_developmental_delay_with_corpus_callosum_defects | 1 | MYCBP2-related_developmental_delay_with_corpus_callosum_defects |
| EXOSC2-associated_short_stature,_hearing_loss,_retinitis_pigmentosa,_and_distinctive_facies_syndrome | 1 | EXOSC2-associated_short_stature,_hearing_loss,_retinitis_pigmentosa,_and_distinctive_facies_syndrome |
| DNAJB4-related_myopathy_with_early_respiratory_failure | 1 | DNAJB4-related_myopathy_with_early_respiratory_failure |
| FOXI3-related_microtia_and_craniofacial_microsomia | 1 | FOXI3-related_microtia_and_craniofacial_microsomia |
| DAW1-associated_ciliopathy | 1 | DAW1-associated_ciliopathy |
| SCNM1-associated_orofaciodigital_syndrome | 1 | SCNM1-associated_orofaciodigital_syndrome |
| LETM1-related_neurodevelopmental_disorder | 1 | LETM1-related_neurodevelopmental_disorder |
| FRMD5-related_developmental_disorder_ | 1 | FRMD5-related_developmental_disorder_ |
| SLC35B2-related_chondrodysplasia_with_hypomyelinating_leukodystrophy | 1 | SLC35B2-related_chondrodysplasia_with_hypomyelinating_leukodystrophy |
| ATL1-associated_hereditary_spastic_paraplegia | 1 | ATL1-associated_hereditary_spastic_paraplegia |
| TRPC5-related_neurodevelopmental_disorder | 1 | TRPC5-related_neurodevelopmental_disorder |
| NUP54-related_early-onset_dystonia_with_striatal_lesions | 1 | NUP54-related_early-onset_dystonia_with_striatal_lesions |
| Developmental_delay | 1 | Developmental_delay |
| WDR5-related_neurodevelopmental_disorder | 1 | WDR5-related_neurodevelopmental_disorder |
| TRA2B-associated_neurodevelopmental_syndrome | 1 | TRA2B-associated_neurodevelopmental_syndrome |
| CAMSAP1-associated_neuronal_migration_disorder | 1 | CAMSAP1-associated_neuronal_migration_disorder |
| MAN2A2-related_disorder_of_glycosylation | 1 | MAN2A2-related_disorder_of_glycosylation |
| Rabin-Pappas_syndrome | 1 | Rabin-Pappas_syndrome |
| SLC30A7-associated_Joubert_syndrome | 1 | SLC30A7-associated_Joubert_syndrome |
| BAZ2B-related_neurodevelopmental_disorder | 1 | BAZ2B-related_neurodevelopmental_disorder |
| NAE1-associated_neurodevelopmental_disorder_with_intellectual_disability,_ischiopubic_hypoplasia,_stress-mediated_lymphopenia_and_neurodegeneration | 1 | NAE1-associated_neurodevelopmental_disorder_with_intellectual_disability,_ischiopubic_hypoplasia,_stress-mediated_lymphopenia_and_neurodegeneration |
| ZMYM3-related_neurodevelopmental_disorder | 1 | ZMYM3-related_neurodevelopmental_disorder |
| JMJD1C-related_neurodevelopmental_disorder | 1 | JMJD1C-related_neurodevelopmental_disorder |
| ATG4D-related_neurodevelopmental_disorder | 1 | ATG4D-related_neurodevelopmental_disorder |
| AMOTL1-related_orofacial_clefting,_cardiac_anomalies,_and_tall_stature | 1 | AMOTL1-related_orofacial_clefting,_cardiac_anomalies,_and_tall_stature |
| HMGB1-related_brachyphalangy,_polydactyly_and_tibial_aplasia_syndrome | 1 | HMGB1-related_brachyphalangy,_polydactyly_and_tibial_aplasia_syndrome |
| ATP1A2-related_epileptic_encephalopathy | 1 | ATP1A2-related_epileptic_encephalopathy |
| Autosomal_recessive_ATP1A2-related_neuronal_migration_disorder_with_epilepsy_ | 1 | Autosomal_recessive_ATP1A2-related_neuronal_migration_disorder_with_epilepsy_ |
| Autosomal_recessive_GRIN2A-related_neurodevelopmental_disorder | 1 | Autosomal_recessive_GRIN2A-related_neurodevelopmental_disorder |
| Autosomal_dominant_SARS1-related_neurodevelopmental_disorder | 1 | Autosomal_dominant_SARS1-related_neurodevelopmental_disorder |
| FXR1-related_congenital_myopathy | 1 | FXR1-related_congenital_myopathy |
| SPRY1-associated_craniosynostosis_with_inner_ear_and_renal_anomalies | 1 | SPRY1-associated_craniosynostosis_with_inner_ear_and_renal_anomalies |
| GTF2IRD1-related_neurodevelopmental_disorder | 1 | GTF2IRD1-related_neurodevelopmental_disorder |
| OTUD5-associated_neurodevelopmental_disorder | 1 | OTUD5-associated_neurodevelopmental_disorder |
| KDM2B-related_neurodevelopmental_disorder | 1 | KDM2B-related_neurodevelopmental_disorder |
| SLC1A4-related_Spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly | 1 | SLC1A4-related_Spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly |
| ARF3-related_neurodevelopmental_disorder | 1 | ARF3-related_neurodevelopmental_disorder |
| SLF2-related_developmental_disorder | 1 | SLF2-related_developmental_disorder |
| SMC5-related_developmental_disorder | 1 | SMC5-related_developmental_disorder |
| FEM1C-related_developmental_disorder | 1 | FEM1C-related_developmental_disorder |
| TCEAL1-related_neurodevelopmental_disorder_ | 1 | TCEAL1-related_neurodevelopmental_disorder_ |
| REST-related_gingival_fibromatosis_and_sensorineural_hearing_loss | 1 | REST-related_gingival_fibromatosis_and_sensorineural_hearing_loss |
| UHRF1-related_immunodeficiency-centromeric_instability-facial_anomalies_syndrome | 1 | UHRF1-related_immunodeficiency-centromeric_instability-facial_anomalies_syndrome |
| MPC2-related_metabolic_disorder | 1 | MPC2-related_metabolic_disorder |
| CRLS1-related_mitochondrial_disorder_ | 1 | CRLS1-related_mitochondrial_disorder_ |
| BSN-related_epilepsy_ | 1 | BSN-related_epilepsy_ |
| CACNA2D1-related_neurodevelopmental_disorder_ | 1 | CACNA2D1-related_neurodevelopmental_disorder_ |
| KIF5B-related_disease | 1 | KIF5B-related_disease |
| PIGP-associated_multiple_congenital_anomalies-hypotonia-seizures_syndrome | 1 | PIGP-associated_multiple_congenital_anomalies-hypotonia-seizures_syndrome |
| STX1A-associated_neurodevelopmental_disorder_with_epilepsy | 1 | STX1A-associated_neurodevelopmental_disorder_with_epilepsy |
| STX1A-associated_neurodevelopmental_disorder_without_epilepsy_ | 1 | STX1A-associated_neurodevelopmental_disorder_without_epilepsy_ |
| PIP5K1C-associated_neurodevelopmental_disorder | 1 | PIP5K1C-associated_neurodevelopmental_disorder |
| PLAG1-associated_Silver_Russell_Syndrome | 1 | PLAG1-associated_Silver_Russell_Syndrome |
| LEF1-related_ectodermal_dysplasia_and_limb_malformation | 1 | LEF1-related_ectodermal_dysplasia_and_limb_malformation |
| Autosomal_dominant_EIF4A2-related_neurodevelopmental_disorder_with_hypotonia_and_epilepsy__ | 1 | Autosomal_dominant_EIF4A2-related_neurodevelopmental_disorder_with_hypotonia_and_epilepsy__ |
| Autosomal_recessive_EIF4A2-related_neurodevelopmental_disorder_ | 1 | Autosomal_recessive_EIF4A2-related_neurodevelopmental_disorder_ |
| TTI1-related_microcephaly,_intellectual_disability_and_ataxia | 1 | TTI1-related_microcephaly,_intellectual_disability_and_ataxia |
| YWHAE-related_developmental_delay,_seizures,_hypotonia_and_brain_abnormalities | 1 | YWHAE-related_developmental_delay,_seizures,_hypotonia_and_brain_abnormalities |
| GABRA2-related_epileptic_encephalopathy | 1 | GABRA2-related_epileptic_encephalopathy |
| LMOD2-related_infantile_dilated_cardiomyopathy | 1 | LMOD2-related_infantile_dilated_cardiomyopathy |
| TSPEAR-related_ectodermal_dysplasia_and_tooth_agenesis | 1 | TSPEAR-related_ectodermal_dysplasia_and_tooth_agenesis |
| RABGAP1-related_neurodevelopmental_disorder_with_microcephaly_and_sensorineural_hearing_loss | 1 | RABGAP1-related_neurodevelopmental_disorder_with_microcephaly_and_sensorineural_hearing_loss |
| FOSL2-related_neurodevelopmental_disorder_with_scalp_and_enamel_defects | 1 | FOSL2-related_neurodevelopmental_disorder_with_scalp_and_enamel_defects |
| SNAPC4-related_neurodevelopmental_disorder_with_motor_regression,_progressive_spastic_paraplegia,_and_oromotor_dysfunction | 1 | SNAPC4-related_neurodevelopmental_disorder_with_motor_regression,_progressive_spastic_paraplegia,_and_oromotor_dysfunction |
| PABPC1-related_developmental_delay | 1 | PABPC1-related_developmental_delay |
| IER3IP1-related_microcephaly_with_simplified_gyral_pattern,_epilepsy,_and_neonatal_diabetes | 1 | IER3IP1-related_microcephaly_with_simplified_gyral_pattern,_epilepsy,_and_neonatal_diabetes |
| CWF19L1-related_developmental_delay_with_epilepsy,_progressive_ataxia_and_cerebellar_atrophy | 1 | CWF19L1-related_developmental_delay_with_epilepsy,_progressive_ataxia_and_cerebellar_atrophy |
| PHF5A-related_neurodevelopmental_disorder_with_congenital_malformations | 1 | PHF5A-related_neurodevelopmental_disorder_with_congenital_malformations |
| KLHL20-related_developmental_disorder_with_seizures | 1 | KLHL20-related_developmental_disorder_with_seizures |
| SLC18A2-related_neurotransmitter_disorder_with_dystonia_and_oculogyric_crisis | 1 | SLC18A2-related_neurotransmitter_disorder_with_dystonia_and_oculogyric_crisis |
| HECTD4-related_neurodevelopmental_disorder_with_seizures,_hypotonia,_spasticity,_and_agenesis_of_the_corpus_callosum | 1 | HECTD4-related_neurodevelopmental_disorder_with_seizures,_hypotonia,_spasticity,_and_agenesis_of_the_corpus_callosum |
| UBE3C-related_neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioural_abnormalities | 1 | UBE3C-related_neurodevelopmental_disorder_with_absent_speech_and_movement_and_behavioural_abnormalities |
| MRTFB-related_neurodevelopmental_disorder | 1 | MRTFB-related_neurodevelopmental_disorder |
| ANGPT2-related_non-immune_hydrops_fetalis | 1 | ANGPT2-related_non-immune_hydrops_fetalis |
| WNT7B-related_PDAC_syndrome | 1 | WNT7B-related_PDAC_syndrome |
| CBX1-related_neurodevelopmental_disorder | 1 | CBX1-related_neurodevelopmental_disorder |
| PSMC3-related_neurodevelopmental_disorder | 1 | PSMC3-related_neurodevelopmental_disorder |
| ESAM-related_neurodevelopmental_disorder_with_intracranial_hemorrhage,_seizures,_and_spasticity | 1 | ESAM-related_neurodevelopmental_disorder_with_intracranial_hemorrhage,_seizures,_and_spasticity |
| CNOT2-related_neurodevelopmental_disorder_with_hypotonia | 1 | CNOT2-related_neurodevelopmental_disorder_with_hypotonia |
| CNOT9-related_developmental_disorder_with_seizures | 1 | CNOT9-related_developmental_disorder_with_seizures |
| FDXR-related_optic_atrophy-ataxia-peripheral_neuropathy-global_developmental_delay_syndrome | 1 | FDXR-related_optic_atrophy-ataxia-peripheral_neuropathy-global_developmental_delay_syndrome |
| FILIP1-related_arthrogryposis_multiplex_congenita_with_microcephaly | 1 | FILIP1-related_arthrogryposis_multiplex_congenita_with_microcephaly |
| AMFR-related_spastic_paraplegia_with/without_neurodevelopmental_delay | 1 | AMFR-related_spastic_paraplegia_with/without_neurodevelopmental_delay |
| DHX9-related_neurodevelopmental_disorder_and_Charcot-Marie-Tooth_disease | 1 | DHX9-related_neurodevelopmental_disorder_and_Charcot-Marie-Tooth_disease |
| TBC1D32-related_ciliopathy | 1 | TBC1D32-related_ciliopathy |
| MTFMT-related_mitochondrial_disease_with_regression_and_lactic_acidosis | 1 | MTFMT-related_mitochondrial_disease_with_regression_and_lactic_acidosis |
| FIBP-related_overgrowth_syndrome_with_developmental_delay_(Thauvin-Robinet-Faivre_syndrome) | 1 | FIBP-related_overgrowth_syndrome_with_developmental_delay_(Thauvin-Robinet-Faivre_syndrome) |
| YWHAZ-related_developmental_delay_with_simplified_gyral_pattern | 1 | YWHAZ-related_developmental_delay_with_simplified_gyral_pattern |
| PPM1K-related_maple_syrup_urine_disease | 1 | PPM1K-related_maple_syrup_urine_disease |
| CBFB-related_cleidocranial_dysplasia | 1 | CBFB-related_cleidocranial_dysplasia |
| SART3-related_neurodevelopmental_disorder_with_46,XY_gonadal_dysgenesis_(INDYGON) | 1 | SART3-related_neurodevelopmental_disorder_with_46,XY_gonadal_dysgenesis_(INDYGON) |
| ERI1-related_severe_growth_restriction_and_skeletal_dysplasia | 1 | ERI1-related_severe_growth_restriction_and_skeletal_dysplasia |
| ERI1-related_brachydactyly_and_mild_neurodevelopmental_delay | 1 | ERI1-related_brachydactyly_and_mild_neurodevelopmental_delay |
| ZNF808-related_pancreatic_agenesis | 1 | ZNF808-related_pancreatic_agenesis |
| RPH3A-related_neurodevelopmental_disorder | 1 | RPH3A-related_neurodevelopmental_disorder |
| TMEM63B-related_developmental_and_epileptic_encephalopathy_with_anaemia | 1 | TMEM63B-related_developmental_and_epileptic_encephalopathy_with_anaemia |
| IKZF2-related_ICHAD_syndrome | 1 | IKZF2-related_ICHAD_syndrome |
| TDP2-related_spinocerebellar_ataxia_with_seizures_and_developmental_delay | 1 | TDP2-related_spinocerebellar_ataxia_with_seizures_and_developmental_delay |
| EZH1-related_neurodevelopmental_disorder | 1 | EZH1-related_neurodevelopmental_disorder |
| INTS1-related_neurodevelopmental_disorder_with_cataracts,_hypotonia_and_gait_abnormality | 1 | INTS1-related_neurodevelopmental_disorder_with_cataracts,_hypotonia_and_gait_abnormality |
| TOR1A-associated_arthrogryposis_multiplex_congenita_(AR) | 1 | TOR1A-associated_arthrogryposis_multiplex_congenita_(AR) |
| HMGCR-related_limb-girdle_muscular_dystrophy | 1 | HMGCR-related_limb-girdle_muscular_dystrophy |
| RAB34-related_orofaciodigital_syndrome | 1 | RAB34-related_orofaciodigital_syndrome |
| PEX14-related_autosomal_dominant_Zellweger_spectrum_disorder | 1 | PEX14-related_autosomal_dominant_Zellweger_spectrum_disorder |
| LSM11-related_Aicardi-Goutieres_syndrome | 1 | LSM11-related_Aicardi-Goutieres_syndrome |
| CRELD1-related_neurodevelopmental_disorder_with_hypotonia_and_seizures | 1 | CRELD1-related_neurodevelopmental_disorder_with_hypotonia_and_seizures |
| AGPAT3-related_intellectual_disability_and_retinitis_pigmentosa_ | 1 | AGPAT3-related_intellectual_disability_and_retinitis_pigmentosa_ |
| DOT1L-related_neurodevelopmental_disorder_with_intracranial_anomalies | 1 | DOT1L-related_neurodevelopmental_disorder_with_intracranial_anomalies |
| CTR9-related_neurodevelopmental_disorder | 1 | CTR9-related_neurodevelopmental_disorder |
| PRPF19-related_neurodevelopmental_disorder | 1 | PRPF19-related_neurodevelopmental_disorder |
| RNU4-2_related_neurodevelopmental_disorder_with_microcephaly_and_seizures | 1 | RNU4-2_related_neurodevelopmental_disorder_with_microcephaly_and_seizures |
| PPFIA3-related_neurodevelopmental_disorder | 1 | PPFIA3-related_neurodevelopmental_disorder |
| CAMK2D-related_neurodevelopmental_disorder_and_dilated_cardiomyopathy_ | 1 | CAMK2D-related_neurodevelopmental_disorder_and_dilated_cardiomyopathy_ |
| PAX1-related_oculo-auriculo-vertebral_syndrome | 1 | PAX1-related_oculo-auriculo-vertebral_syndrome |
| MAST3-related_developmental_and_epileptic_encephalopathy | 1 | MAST3-related_developmental_and_epileptic_encephalopathy |
| ACTC1-related_distal_arthrogryposis_with_congenital_heart_disease | 1 | ACTC1-related_distal_arthrogryposis_with_congenital_heart_disease |
| KCND2-related_neurodevelopmental_disorder_with_or_without_seizures | 1 | KCND2-related_neurodevelopmental_disorder_with_or_without_seizures |
| KCNN2-related_neurodevelopmental_disorder_with_or_without_movement_disorder | 1 | KCNN2-related_neurodevelopmental_disorder_with_or_without_movement_disorder |
| ZBTB11-related_neurodevelopmental_disorder_with_or_without_cataracts_and_movement_disorder | 1 | ZBTB11-related_neurodevelopmental_disorder_with_or_without_cataracts_and_movement_disorder |
| DENND5B-related_neurodevelopmental_disorder_with_cortical_migration_and_white_matter_abnormalities | 1 | DENND5B-related_neurodevelopmental_disorder_with_cortical_migration_and_white_matter_abnormalities |
| ZBTB47-related_developmental_delay,_intellectual_disability,_hypotonia_and_seizures | 1 | ZBTB47-related_developmental_delay,_intellectual_disability,_hypotonia_and_seizures |
| INTS11-related_neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities | 1 | INTS11-related_neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities |
| MAP4K4-related_neurodevelopmental_disorder_with/without_congenital_anomalies | 1 | MAP4K4-related_neurodevelopmental_disorder_with/without_congenital_anomalies |
| LHX2-related_neurodevelopmental_disorder_with_or_without_microcephaly_ | 1 | LHX2-related_neurodevelopmental_disorder_with_or_without_microcephaly_ |
| RNH1-related_susceptibility_to_infection-related_encephalopathy | 1 | RNH1-related_susceptibility_to_infection-related_encephalopathy |
| NALCN-related_temporal_lobe_epilepsy | 1 | NALCN-related_temporal_lobe_epilepsy |
| RRAGC-related_congenital_dilated_cardiomyopathy_with_hyperlactatemia,_deranged_liver_function_and_cataracts_ | 1 | RRAGC-related_congenital_dilated_cardiomyopathy_with_hyperlactatemia,_deranged_liver_function_and_cataracts_ |
| GTPBP1-related_neurodevelopmental_disorder_with_severe-profound_intellectual_disability,_spasticity_and_ectodermal_features. | 1 | GTPBP1-related_neurodevelopmental_disorder_with_severe-profound_intellectual_disability,_spasticity_and_ectodermal_features. |
| BORCS8-related_early-infantile_neurological_disorder_with_severe_intellectual_disability,_hypotonia_and_congenital_heart_disease | 1 | BORCS8-related_early-infantile_neurological_disorder_with_severe_intellectual_disability,_hypotonia_and_congenital_heart_disease |
| FICD-related_infancy-onset_diabetes_and_neurodevelopmental_disorder | 1 | FICD-related_infancy-onset_diabetes_and_neurodevelopmental_disorder |
| DSC2-related_ARVC | 1 | DSC2-related_ARVC |
| DSG2-related_ARVC | 1 | DSG2-related_ARVC |
| DSP-related_ARVC | 1 | DSP-related_ARVC |
| PKP2-related__ARVC | 1 | PKP2-related__ARVC |
| TMEM43-related__ARVC | 1 | TMEM43-related__ARVC |
| JUP-related_Naxos_disease | 1 | JUP-related_Naxos_disease |
| CALM1-related_CPVT | 1 | CALM1-related_CPVT |
| CALM2-related_CPVT | 1 | CALM2-related_CPVT |
| CALM3-related_CPVT | 1 | CALM3-related_CPVT |
| TECRL-related_CPVT | 1 | TECRL-related_CPVT |
| TRDN-related_CPVT | 1 | TRDN-related_CPVT |
| SCN5A-related_BrS | 1 | SCN5A-related_BrS |
| CASQ2-related_CPVT | 1 | CASQ2-related_CPVT |
| KCNH2-related_SQTS | 1 | KCNH2-related_SQTS |
| KCNJ2_relared_SQTS | 1 | KCNJ2_relared_SQTS |
| KCNQ1-related_SQTS | 1 | KCNQ1-related_SQTS |
| SLC4A3-related_SQTS | 1 | SLC4A3-related_SQTS |
| BAG3-related_DCM | 1 | BAG3-related_DCM |
| DES-related_DCM | 1 | DES-related_DCM |
| FLNC-related_DCM | 1 | FLNC-related_DCM |
| LMNA-related_DCM | 1 | LMNA-related_DCM |
| MYH7-related_DCM | 1 | MYH7-related_DCM |
| PLN-related_Intrinsic_Cardiomyopathy | 1 | PLN-related_Intrinsic_Cardiomyopathy |
| RBM20-related_DCM | 1 | RBM20-related_DCM |
| TNNC1-related_DCM | 1 | TNNC1-related_DCM |
| TNNT2-related_DCM | 1 | TNNT2-related_DCM |
| TTN-related_DCM | 1 | TTN-related_DCM |
| ACTC1-related_HCM | 1 | ACTC1-related_HCM |
| MYBPC3-related_HCM | 1 | MYBPC3-related_HCM |
| MYL2-related_HCM | 1 | MYL2-related_HCM |
| MYL3-related_HCM | 1 | MYL3-related_HCM |
| TNNI3-related_HCM | 1 | TNNI3-related_HCM |
| TPM1-related_HCM | 1 | TPM1-related_HCM |
| KCNH2-related_LQTS | 1 | KCNH2-related_LQTS |
| KCNQ1-related_LQTS | 1 | KCNQ1-related_LQTS |
| SCN5A-related_LQTS | 1 | SCN5A-related_LQTS |
| TRDN-related_LQTS | 1 | TRDN-related_LQTS |
| ALPK3-related_HCM | 1 | ALPK3-related_HCM |
| DES-related_Myofibrillar_myopathy | 1 | DES-related_Myofibrillar_myopathy |
| FHL1-related_Emery-related_Dreifuss_MD | 1 | FHL1-related_Emery-related_Dreifuss_MD |
| FLNC-related_Myofibrillar_myopathy | 1 | FLNC-related_Myofibrillar_myopathy |
| GLA-related_Fabry_disease | 1 | GLA-related_Fabry_disease |
| LAMP2-related_Danon_disease | 1 | LAMP2-related_Danon_disease |
| PRKAG2-related_cardiomyopathy | 1 | PRKAG2-related_cardiomyopathy |
| KCNQ1-related_JLNS | 1 | KCNQ1-related_JLNS |
| SLC22A5-related_primary_systemic_carnitine_deficiency | 1 | SLC22A5-related_primary_systemic_carnitine_deficiency |
| MYH7-related_HCM | 1 | MYH7-related_HCM |
| CALM1-related_LQTS | 1 | CALM1-related_LQTS |
| CALM2-related_LQTS | 1 | CALM2-related_LQTS |
| CALM3-related_LQTS | 1 | CALM3-related_LQTS |
| TNNT2-related_HCM | 1 | TNNT2-related_HCM |
| KCNJ2-related_Andersen-related_Tawil_syndrome | 1 | KCNJ2-related_Andersen-related_Tawil_syndrome |
| PTPN11-related_Noonan_syndrome | 1 | PTPN11-related_Noonan_syndrome |
| RAF1-related_Noonan_syndrome | 1 | RAF1-related_Noonan_syndrome |
| RIT1-related_Noonan_syndrome | 1 | RIT1-related_Noonan_syndrome |
| RYR2-related_CPVT | 1 | RYR2-related_CPVT |
| PTPN11-related_NSML_syndrome | 1 | PTPN11-related_NSML_syndrome |
| ABCC9-related_Cantu_Syndrome | 1 | ABCC9-related_Cantu_Syndrome |
| CRYAB-related_Alpha-related_B_crystallinpathy | 1 | CRYAB-related_Alpha-related_B_crystallinpathy |
| FXN-related_Friedreich_ataxia | 1 | FXN-related_Friedreich_ataxia |
| GAA-related_Pompe_disease | 1 | GAA-related_Pompe_disease |
| MYO6-related_nonsyndromic_genetic_hearing_loss | 1 | MYO6-related_nonsyndromic_genetic_hearing_loss |
| SLC25A4-related_Mitochondrial_disease | 1 | SLC25A4-related_Mitochondrial_disease |
| BAG3-related_Myofibrillar_myopathy | 1 | BAG3-related_Myofibrillar_myopathy |
| DSP-related_DCM | 1 | DSP-related_DCM |
| SCN5A-related_DCM | 1 | SCN5A-related_DCM |
| TTR-related_hereditary_ATTR_amyloidosis | 1 | TTR-related_hereditary_ATTR_amyloidosis |
| Anauxetic_Dysplasia | 1 | Anauxetic_Dysplasia |
| Retinoschisis | 1 | Retinoschisis |
| EXUDATIVE_VITREORETINOPATHY_1 | 1 | EXUDATIVE_VITREORETINOPATHY_1 |
| EXUDATIVE_VITREORETINOPATHY_5 | 1 | EXUDATIVE_VITREORETINOPATHY_5 |
| EXUDATIVE_VITREORETINOPATHY_2,_X-LINKED | 1 | EXUDATIVE_VITREORETINOPATHY_2,_X-LINKED |
| EXUDATIVE_VITREORETINOPATHY_6 | 1 | EXUDATIVE_VITREORETINOPATHY_6 |
| RETINITIS_PIGMENTOSA_72 | 1 | RETINITIS_PIGMENTOSA_72 |
| Sorsby_fundus_dystrophy | 1 | Sorsby_fundus_dystrophy |
| Microphthalmia,_isolated,_with_coloboma | 1 | Microphthalmia,_isolated,_with_coloboma |
| Leber_congenital_amaurosis_1 | 1 | Leber_congenital_amaurosis_1 |
| Leber_congenital_amaurosis_2 | 1 | Leber_congenital_amaurosis_2 |
| Granular_corneal_dystrophy,_type_I | 1 | Granular_corneal_dystrophy,_type_I |
| Reis-Bucklers_corneal_dystrophy | 1 | Reis-Bucklers_corneal_dystrophy |
| Thiel-Behnke_corneal_dystrophy | 1 | Thiel-Behnke_corneal_dystrophy |
| Granular_corneal_dystrophy,_type_II | 1 | Granular_corneal_dystrophy,_type_II |
| Cornea_plana | 1 | Cornea_plana |
| Fleck_corneal_dystrophy | 1 | Fleck_corneal_dystrophy |
| Schyder_corneal_dystrophy | 1 | Schyder_corneal_dystrophy |
| Macular_corneal_dystrophy | 1 | Macular_corneal_dystrophy |
| Fibrosis_of_extraocular_muscles,_congenital,_1 | 1 | Fibrosis_of_extraocular_muscles,_congenital,_1 |
| Fibrosis_of_extraocular_muscles,_congenital,_3B | 1 | Fibrosis_of_extraocular_muscles,_congenital,_3B |
| Fibrosis_of_extraocular_muscles,_congenital,_2 | 1 | Fibrosis_of_extraocular_muscles,_congenital,_2 |
| Fibrosis_of_extraocular_muscles,_congenital,_3A | 1 | Fibrosis_of_extraocular_muscles,_congenital,_3A |
| Duane_retraction_syndrome_2 | 1 | Duane_retraction_syndrome_2 |
| Gaze_palsy,_horizontal,_with_progressive_scoliosis | 1 | Gaze_palsy,_horizontal,_with_progressive_scoliosis |
| PHARC | 1 | PHARC |
| Weill-Marchesani-like_syndrome | 1 | Weill-Marchesani-like_syndrome |
| Ectopia_lentis,_isolated,_autosomal_recessive | 1 | Ectopia_lentis,_isolated,_autosomal_recessive |
| MICROSPHEROPHAKIA_AND/OR_MEGALOCORNEA,_WITH_ECTOPIA_LENTIS_AND_WITH_OR_WITHOUT_SECONDARY_GLAUCOMA | 1 | MICROSPHEROPHAKIA_AND/OR_MEGALOCORNEA,_WITH_ECTOPIA_LENTIS_AND_WITH_OR_WITHOUT_SECONDARY_GLAUCOMA |
| Usher_syndrome,_type_2C | 1 | Usher_syndrome,_type_2C |
| Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic | 1 | Usher_syndrome,_type_IIC,_GPR98/PDZD7_digenic |
| Syndromic_retinitis_pigmentosa | 1 | Syndromic_retinitis_pigmentosa |
| Peters-plus_syndrome | 1 | Peters-plus_syndrome |
| Wolfram_syndrome | 1 | Wolfram_syndrome |
| Night_blindness,_congenital_stationary,_autosomal_dominant_1 | 1 | Night_blindness,_congenital_stationary,_autosomal_dominant_1 |
| Retinitis_pigmentosa_4,_autosomal_dominant_or_recessive | 1 | Retinitis_pigmentosa_4,_autosomal_dominant_or_recessive |
| RETINITIS_PIGMENTOSA-12,_AUTOSOMAL_RECESSIVE | 1 | RETINITIS_PIGMENTOSA-12,_AUTOSOMAL_RECESSIVE |
| PIGMENTED_PARAVENOUS_CHORIORETINAL_ATROPHY | 1 | PIGMENTED_PARAVENOUS_CHORIORETINAL_ATROPHY |
| Cataract_6,_multiple_types | 1 | Cataract_6,_multiple_types |
| CATARACT_9,_MULTIPLE_TYPES | 1 | CATARACT_9,_MULTIPLE_TYPES |
| Cataract_16,_multiple_types | 1 | Cataract_16,_multiple_types |
| Myopathy,_myofibrillar,_2 | 1 | Myopathy,_myofibrillar,_2 |
| CATARACT_10,_MULTIPLE_TYPES | 1 | CATARACT_10,_MULTIPLE_TYPES |
| CATARACT_23 | 1 | CATARACT_23 |
| CATARACT_3,_MULTIPLE_TYPES | 1 | CATARACT_3,_MULTIPLE_TYPES |
| CATARACT_22,_MULTIPLE_TYPES | 1 | CATARACT_22,_MULTIPLE_TYPES |
| CATARACT_4,_MULTIPLE_TYPES | 1 | CATARACT_4,_MULTIPLE_TYPES |
| Cataract_33,_multiple_types | 1 | Cataract_33,_multiple_types |
| Cataract_15,_multiple_types | 1 | Cataract_15,_multiple_types |
| Retinitis_pigmentosa_with_or_without_situs_inversus | 1 | Retinitis_pigmentosa_with_or_without_situs_inversus |
| Ocular_albinism | 1 | Ocular_albinism |
| Leber_congenital_amaurosis_13 | 1 | Leber_congenital_amaurosis_13 |
| Leber_congenital_amaurosis_3 | 1 | Leber_congenital_amaurosis_3 |
| Retinitis_pigmentosa_14 | 1 | Retinitis_pigmentosa_14 |
| Leber_congenital_amaurosis_16 | 1 | Leber_congenital_amaurosis_16 |
| Snowflake_vitreoretinal_degeneration | 1 | Snowflake_vitreoretinal_degeneration |
| Wagner_syndrome_1 | 1 | Wagner_syndrome_1 |
| Enhanced_S-cone_syndrome | 1 | Enhanced_S-cone_syndrome |
| Retinitis_pigmentosa_37 | 1 | Retinitis_pigmentosa_37 |
| Retinitis_pigmentosa_27 | 1 | Retinitis_pigmentosa_27 |
| Retinal_degeneration,_autosomal_recessive,_clumped_pigment_type | 1 | Retinal_degeneration,_autosomal_recessive,_clumped_pigment_type |
| Exudative_vitreoretinopathy | 1 | Exudative_vitreoretinopathy |
| Non-syndromic_hereditary_optic_neuropathy | 1 | Non-syndromic_hereditary_optic_neuropathy |
| Persistent_hyperplastic_primary_vitreous,_autosomal_recessive | 1 | Persistent_hyperplastic_primary_vitreous,_autosomal_recessive |
| Familial_exudative_vitreoretinopathy | 1 | Familial_exudative_vitreoretinopathy |
| Retinal_dystrophy_with_or_without_extraocular_anomalies | 1 | Retinal_dystrophy_with_or_without_extraocular_anomalies |
| MICROCEPHALY_WITH_OR_WITHOUT_CHORIORETINOPATHY,_LYMPHEDEMA,_OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | MICROCEPHALY_WITH_OR_WITHOUT_CHORIORETINOPATHY,_LYMPHEDEMA,_OR_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| Primary_congenital_glaucoma | 1 | Primary_congenital_glaucoma |
| Juvenile_open_angle_glaucoma | 1 | Juvenile_open_angle_glaucoma |
| primary_open_angle_glaucoma_(POAG),_GLC1E | 1 | primary_open_angle_glaucoma_(POAG),_GLC1E |
| Glaucoma_1A,_primary_open_angle | 1 | Glaucoma_1A,_primary_open_angle |
| Foveal_hypoplasia_2,_with_or_without_optic_nerve_misrouting_and/or_anterior_segment_dysgenesis | 1 | Foveal_hypoplasia_2,_with_or_without_optic_nerve_misrouting_and/or_anterior_segment_dysgenesis |
| Optic_atrophy_10_with_or_without_ataxia,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_and_seizures | 1 | Optic_atrophy_10_with_or_without_ataxia,_INTELLECTUAL_DEVELOPMENTAL_DISORDER,_and_seizures |
| Optic_atrophy_3_with_cataract | 1 | Optic_atrophy_3_with_cataract |
| 3-methylglutaconic_aciduria,_type_III | 1 | 3-methylglutaconic_aciduria,_type_III |
| Corneal_dystrophy,_posterior_polymorphous,_3 | 1 | Corneal_dystrophy,_posterior_polymorphous,_3 |
| Usher_syndrome,_type_2D | 1 | Usher_syndrome,_type_2D |
| Cataract_31,_multiple_types | 1 | Cataract_31,_multiple_types |
| Retinitis_pigmentosa_26 | 1 | Retinitis_pigmentosa_26 |
| Nephronophthisis_15 | 1 | Nephronophthisis_15 |
| Retinitis_pigmentosa_65 | 1 | Retinitis_pigmentosa_65 |
| Usher_syndrome,_type_1D | 1 | Usher_syndrome,_type_1D |
| Vitreoretinopathy,_neovascular_inflammatory | 1 | Vitreoretinopathy,_neovascular_inflammatory |
| Retinal_cone_dystrophy_4 | 1 | Retinal_cone_dystrophy_4 |
| Aland_Island_eye_disease | 1 | Aland_Island_eye_disease |
| Cone-rod_synaptic_disorder,_congenital_nonprogressive | 1 | Cone-rod_synaptic_disorder,_congenital_nonprogressive |
| Orofaciodigital_syndrome_VI | 1 | Orofaciodigital_syndrome_VI |
| Retinal_degeneration,_late-onset,_autosomal_dominant | 1 | Retinal_degeneration,_late-onset,_autosomal_dominant |
| Neurodegeneration_with_brain_iron_accumulation_4 | 1 | Neurodegeneration_with_brain_iron_accumulation_4 |
| CATARACT_12,_MULTIPLE_TYPES | 1 | CATARACT_12,_MULTIPLE_TYPES |
| Bestrophinopathy,_autosomal_recessive | 1 | Bestrophinopathy,_autosomal_recessive |
| Macular_dystrophy,_vitelliform,_2 | 1 | Macular_dystrophy,_vitelliform,_2 |
| Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma | 1 | Microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma |
| Ehlers-Danlos_syndrome_with_short_stature_and_limb_anomalies | 1 | Ehlers-Danlos_syndrome_with_short_stature_and_limb_anomalies |
| Optic_atrophy_9 | 1 | Optic_atrophy_9 |
| Spinocerebellar_ataxia_7 | 1 | Spinocerebellar_ataxia_7 |
| Achromatopsia_7 | 1 | Achromatopsia_7 |
| Bardet-Biedl_syndrome_18 | 1 | Bardet-Biedl_syndrome_18 |
| Retinitis_pigmentosa_74 | 1 | Retinitis_pigmentosa_74 |
| Usher_syndrome,_type_3A | 1 | Usher_syndrome,_type_3A |
| Retinitis_pigmentosa_61 | 1 | Retinitis_pigmentosa_61 |
| Myotonic_dystrophy_type_2 | 1 | Myotonic_dystrophy_type_2 |
| Retinitis_pigmentosa_type_49 | 1 | Retinitis_pigmentosa_type_49 |
| Achromatopsia_2 | 1 | Achromatopsia_2 |
| Retinitis_pigmentosa_45 | 1 | Retinitis_pigmentosa_45 |
| Achromatopsia_3 | 1 | Achromatopsia_3 |
| Macular_degeneration,_juvenile | 1 | Macular_degeneration,_juvenile |
| Jalili_syndrome | 1 | Jalili_syndrome |
| MARSHALL_SYNDROME | 1 | MARSHALL_SYNDROME |
| Bietti_crystalline_corneoretinal_dystrophy | 1 | Bietti_crystalline_corneoretinal_dystrophy |
| Retinitis_pigmentosa_59 | 1 | Retinitis_pigmentosa_59 |
| Doyne_honeycomb_degeneration_of_retina | 1 | Doyne_honeycomb_degeneration_of_retina |
| Stargardt_disease_3 | 1 | Stargardt_disease_3 |
| Aniridia_2 | 1 | Aniridia_2 |
| Tangier_disease | 1 | Tangier_disease |
| PSEUDOXANTHOMA_ELASTICUM | 1 | PSEUDOXANTHOMA_ELASTICUM |
| BARAITSER-WINTER_SYNDROME_1 | 1 | BARAITSER-WINTER_SYNDROME_1 |
| BARAITSER-WINTER_SYNDROME_2 | 1 | BARAITSER-WINTER_SYNDROME_2 |
| Isolated_ocular_coloboma | 1 | Isolated_ocular_coloboma |
| CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIIA | 1 | CUTIS_LAXA,_AUTOSOMAL_RECESSIVE,_TYPE_IIIA |
| Spastic_paraplegia_9B,_autosomal_recessive | 1 | Spastic_paraplegia_9B,_autosomal_recessive |
| Alpha-methylacyl-CoA_racemase_deficiency | 1 | Alpha-methylacyl-CoA_racemase_deficiency |
| Hermansky-Pudlak_syndrome_2 | 1 | Hermansky-Pudlak_syndrome_2 |
| Joubert_syndrome_8 | 1 | Joubert_syndrome_8 |
| Cone-rod_dystrophy_and_hearing_loss | 1 | Cone-rod_dystrophy_and_hearing_loss |
| Leukoencephalopathy_with_ataxia | 1 | Leukoencephalopathy_with_ataxia |
| STICKLER_SYNDROME,_TYPE_I,_NONSYNDROMIC_OCULAR | 1 | STICKLER_SYNDROME,_TYPE_I,_NONSYNDROMIC_OCULAR |
| SPONDYLOMETAEPIPHYSEAL_DYSPLASIA_CONGENITA,_STRUDWICK_TYPE | 1 | SPONDYLOMETAEPIPHYSEAL_DYSPLASIA_CONGENITA,_STRUDWICK_TYPE |
| Corneal_dystrophy,_Fuchs_endothelial,_1 | 1 | Corneal_dystrophy,_Fuchs_endothelial,_1 |
| Cataract_42 | 1 | Cataract_42 |
| Cataract_39,_multiple_types,_autosomal_dominant | 1 | Cataract_39,_multiple_types,_autosomal_dominant |
| Cataract_20,_multiple_types | 1 | Cataract_20,_multiple_types |
| Macular_dystrophy,_butterfly-shaped_pigmentary,_2 | 1 | Macular_dystrophy,_butterfly-shaped_pigmentary,_2 |
| Corneal_dystrophy,_congenital_stromal | 1 | Corneal_dystrophy,_congenital_stromal |
| Singleton-Merten_syndrome_2 | 1 | Singleton-Merten_syndrome_2 |
| Retinitis_pigmentosa_and_hypogammaglobulinemia | 1 | Retinitis_pigmentosa_and_hypogammaglobulinemia |
| Cone-rod_dystrophy_21 | 1 | Cone-rod_dystrophy_21 |
| TRICHOTHIODYSTROPHY,_PHOTOSENSITIVE | 1 | TRICHOTHIODYSTROPHY,_PHOTOSENSITIVE |
| Spastic_paraplegia_35,_autosomal_recessive | 1 | Spastic_paraplegia_35,_autosomal_recessive |
| LARSEN_SYNDROME | 1 | LARSEN_SYNDROME |
| MAC_spectrum_with_limb_anomalies | 1 | MAC_spectrum_with_limb_anomalies |
| Retinitis_pigmentosa_30 | 1 | Retinitis_pigmentosa_30 |
| Cataract_13_with_adult_i_phenotype | 1 | Cataract_13_with_adult_i_phenotype |
| Microphthalmia_with_coloboma_6 | 1 | Microphthalmia_with_coloboma_6 |
| Microphthalmia,_isolated_7 | 1 | Microphthalmia,_isolated_7 |
| Microphthalmia | 1 | Microphthalmia |
| Myopathy,_mitochondrial_progressive,_with_congenital_cataract,_hearing_loss,_and_developmental_delay | 1 | Myopathy,_mitochondrial_progressive,_with_congenital_cataract,_hearing_loss,_and_developmental_delay |
| PSEUDOXANTHOMA_ELASTICUM-LIKE_SKIN_MANIFESTATIONS_WITH_EYE_ANOMALIES | 1 | PSEUDOXANTHOMA_ELASTICUM-LIKE_SKIN_MANIFESTATIONS_WITH_EYE_ANOMALIES |
| CATARACT_14,_MULTIPLE_TYPES | 1 | CATARACT_14,_MULTIPLE_TYPES |
| CATARACT_1,_MULTIPLE_TYPES | 1 | CATARACT_1,_MULTIPLE_TYPES |
| Congenital_corneal_opacification,_sclerocornea | 1 | Congenital_corneal_opacification,_sclerocornea |
| Pseudohypoparathyroidism_Ia | 1 | Pseudohypoparathyroidism_Ia |
| PSEUDOPSEUDOHYPOPARATHYROIDISM | 1 | PSEUDOPSEUDOHYPOPARATHYROIDISM |
| Pseudohypoparathyroidism_Ic | 1 | Pseudohypoparathyroidism_Ic |
| Rod-cone_dystrophy | 1 | Rod-cone_dystrophy |
| Night_blindness,_congenital_stationary,_autosomal_dominant_3 | 1 | Night_blindness,_congenital_stationary,_autosomal_dominant_3 |
| Night_blindness,_congenital_stationary,_type_1G | 1 | Night_blindness,_congenital_stationary,_type_1G |
| Achromatopsia_4 | 1 | Achromatopsia_4 |
| Night_blindness,_congenital_stationary,_type_1H | 1 | Night_blindness,_congenital_stationary,_type_1H |
| Non-syndromic_retinitis_pigmentosa | 1 | Non-syndromic_retinitis_pigmentosa |
| Night_blindness,_congenital_stationary_(complete),_1E,_autosomal_recessive | 1 | Night_blindness,_congenital_stationary_(complete),_1E,_autosomal_recessive |
| Oguchi_disease-2 | 1 | Oguchi_disease-2 |
| Ceroid_lipofuscinosis,_neuronal,_11 | 1 | Ceroid_lipofuscinosis,_neuronal,_11 |
| Amyloidosis,_Finnish_type | 1 | Amyloidosis,_Finnish_type |
| Cone_dystrophy-3 | 1 | Cone_dystrophy-3 |
| Cone-rod_dystrophy_14 | 1 | Cone-rod_dystrophy_14 |
| Retinitis_pigmentosa_73 | 1 | Retinitis_pigmentosa_73 |
| Hermansky-Pudlak_syndrome_3 | 1 | Hermansky-Pudlak_syndrome_3 |
| Retinitis_pigmentosa_46 | 1 | Retinitis_pigmentosa_46 |
| Bardet-Biedl_syndrome_19 | 1 | Bardet-Biedl_syndrome_19 |
| Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly | 1 | Short-rib_thoracic_dysplasia_16_with_or_without_polydactyly |
| Retinitis_pigmentosa_10 | 1 | Retinitis_pigmentosa_10 |
| Leber_cogenital_amaurosis_11 | 1 | Leber_cogenital_amaurosis_11 |
| Macular_dystrophy,_vitelliform,_4 | 1 | Macular_dystrophy,_vitelliform,_4 |
| Retinitis_pigmentosa_56 | 1 | Retinitis_pigmentosa_56 |
| Macular_dystrophy,_vitelliform,_5 | 1 | Macular_dystrophy,_vitelliform,_5 |
| Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities | 1 | Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities |
| BBYSS_syndrome | 1 | BBYSS_syndrome |
| Retinal_cone_dystrophy_3B | 1 | Retinal_cone_dystrophy_3B |
| Joubert_syndrome_23 | 1 | Joubert_syndrome_23 |
| Retinitis_pigmentosa_69 | 1 | Retinitis_pigmentosa_69 |
| Retinitis_pigmentosa_42 | 1 | Retinitis_pigmentosa_42 |
| Poretti-Boltshauser_syndrome | 1 | Poretti-Boltshauser_syndrome |
| Leber_congenital_amaurosis_5 | 1 | Leber_congenital_amaurosis_5 |
| Fish-eye_disease | 1 | Fish-eye_disease |
| Cataract_46,_juvenile-onset | 1 | Cataract_46,_juvenile-onset |
| Myopia,_high,_with_cataract_and_vitreoretinal_degeneration | 1 | Myopia,_high,_with_cataract_and_vitreoretinal_degeneration |
| Cataract_19,_multiple_types | 1 | Cataract_19,_multiple_types |
| Leber_congenital_amaurosis_14 | 1 | Leber_congenital_amaurosis_14 |
| Night_blindness,_congenital_stationary_(complete),_1F,_autosomal_recessive | 1 | Night_blindness,_congenital_stationary_(complete),_1F,_autosomal_recessive |
| Cataract_44 | 1 | Cataract_44 |
| Bardet-Biedl_syndrome_17 | 1 | Bardet-Biedl_syndrome_17 |
| Ayme-Gripp_syndrome | 1 | Ayme-Gripp_syndrome |
| Duane_retraction_syndrome_3 | 1 | Duane_retraction_syndrome_3 |
| Retinitis_pigmentosa_62 | 1 | Retinitis_pigmentosa_62 |
| Mannosidosis,_alpha-,_types_I_and_II | 1 | Mannosidosis,_alpha-,_types_I_and_II |
| Macular_dystrophy,_patterned,_3 | 1 | Macular_dystrophy,_patterned,_3 |
| Retinitis_pigmentosa_38 | 1 | Retinitis_pigmentosa_38 |
| Hereditary_motor_and_sensory_neuropathy_VIA | 1 | Hereditary_motor_and_sensory_neuropathy_VIA |
| Charcot-Marie-Tooth_disease,_axonal,_type_2A2B | 1 | Charcot-Marie-Tooth_disease,_axonal,_type_2A2B |
| NANOPHTHALMOS_2 | 1 | NANOPHTHALMOS_2 |
| Ceroid_lipofuscinosis,_neuronal,_7 | 1 | Ceroid_lipofuscinosis,_neuronal,_7 |
| Retinal_dystrophy_and_iris_coloboma_with_or_without_cataract | 1 | Retinal_dystrophy_and_iris_coloboma_with_or_without_cataract |
| COMMAD_syndrome | 1 | COMMAD_syndrome |
| WAARDENBURG_SYNDROME_TYPE_2_WITH_OCULAR_ALBINISM | 1 | WAARDENBURG_SYNDROME_TYPE_2_WITH_OCULAR_ALBINISM |
| Molybdenum_cofactor_deficiency_B | 1 | Molybdenum_cofactor_deficiency_B |
| ABETALIPOPROTEINEMIA | 1 | ABETALIPOPROTEINEMIA |
| Hyper-IgD_syndrome | 1 | Hyper-IgD_syndrome |
| Mevalonic_aciduria | 1 | Mevalonic_aciduria |
| EPSTEIN_SYNDROME | 1 | EPSTEIN_SYNDROME |
| USHER_SYNDROME_TYPE_1B | 1 | USHER_SYNDROME_TYPE_1B |
| Microphthalmia,_syndromic_1 | 1 | Microphthalmia,_syndromic_1 |
| Short_stature,_optic_nerve_atrophy,_and_Pelger-Huet_anomaly | 1 | Short_stature,_optic_nerve_atrophy,_and_Pelger-Huet_anomaly |
| Retinitis_pigmentosa_67 | 1 | Retinitis_pigmentosa_67 |
| NEUROFIBROMATOSIS,_TYPE_2 | 1 | NEUROFIBROMATOSIS,_TYPE_2 |
| ALAGILLE_SYNDROME_2 | 1 | ALAGILLE_SYNDROME_2 |
| JOUBERT_SYNDROME_TYPE_4 | 1 | JOUBERT_SYNDROME_TYPE_4 |
| SENIOR-LOKEN_SYNDROME_4 | 1 | SENIOR-LOKEN_SYNDROME_4 |
| Night_blindness,_congenital_stationary_(complete),_1A,_X-linked | 1 | Night_blindness,_congenital_stationary_(complete),_1A,_X-linked |
| Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia | 1 | Gyrate_atrophy_of_choroid_and_retina_with_or_without_ornithinemia |
| Oculocutaneous_albinism | 1 | Oculocutaneous_albinism |
| Retinitis_pigmentosa_23 | 1 | Retinitis_pigmentosa_23 |
| Corneal_dystrophy,_posterior_polymorphous,_1 | 1 | Corneal_dystrophy,_posterior_polymorphous,_1 |
| HARP_syndrome | 1 | HARP_syndrome |
| PAPILLORENAL_SYNDROME | 1 | PAPILLORENAL_SYNDROME |
| Usher_syndrome,_type_1F | 1 | Usher_syndrome,_type_1F |
| Retinitis_pigmentosa_43 | 1 | Retinitis_pigmentosa_43 |
| Night_blindness,_congenital_stationary,_autosomal_dominant_2 | 1 | Night_blindness,_congenital_stationary,_autosomal_dominant_2 |
| Retinitis_pigmentosa-40 | 1 | Retinitis_pigmentosa-40 |
| Cone_dystrophy_4 | 1 | Cone_dystrophy_4 |
| Familial_Sturge-Weber_syndrome | 1 | Familial_Sturge-Weber_syndrome |
| Sturge-Weber_syndrome | 1 | Sturge-Weber_syndrome |
| Epithelial_recurrent_erosion_dystrophy | 1 | Epithelial_recurrent_erosion_dystrophy |
| Corneal_intraepithelial_dyskeratosis | 1 | Corneal_intraepithelial_dyskeratosis |
| Autoinflammation_with_arthritis_and_dyskeratosis | 1 | Autoinflammation_with_arthritis_and_dyskeratosis |
| Brittle_cornea_syndrome_2 | 1 | Brittle_cornea_syndrome_2 |
| Axenfeld-Rieger_syndrome | 1 | Axenfeld-Rieger_syndrome |
| Peroxisome_biogenesis_disorder_1A | 1 | Peroxisome_biogenesis_disorder_1A |
| PEROXISOME_BIOGENESIS_DISORDER_6B | 1 | PEROXISOME_BIOGENESIS_DISORDER_6B |
| PEROXISOME_BIOGENESIS_DISORDER_3B | 1 | PEROXISOME_BIOGENESIS_DISORDER_3B |
| PEROXISOME_BIOGENESIS_DISORDER_11B | 1 | PEROXISOME_BIOGENESIS_DISORDER_11B |
| Peroxisome_biogenesis_disorder_13A | 1 | Peroxisome_biogenesis_disorder_13A |
| PEROXISOME_BIOGENESIS_DISORDER_8B | 1 | PEROXISOME_BIOGENESIS_DISORDER_8B |
| Peroxisome_biogenesis_disorder_12A | 1 | Peroxisome_biogenesis_disorder_12A |
| PEROXISOME_BIOGENESIS_DISORDER_5B | 1 | PEROXISOME_BIOGENESIS_DISORDER_5B |
| PEROXISOME_BIOGENESIS_DISORDER_7B | 1 | PEROXISOME_BIOGENESIS_DISORDER_7B |
| Peroxisome_biogenesis_disorder_10A | 1 | Peroxisome_biogenesis_disorder_10A |
| Peroxisome_biogenesis_disorder_10B | 1 | Peroxisome_biogenesis_disorder_10B |
| PEROXISOME_BIOGENESIS_DISORDER_2B | 1 | PEROXISOME_BIOGENESIS_DISORDER_2B |
| PEROXISOME_BIOGENESIS_DISORDER_4B | 1 | PEROXISOME_BIOGENESIS_DISORDER_4B |
| RHIZOMELIC_CHONDRODYSPLASIA_PUNCTATA,_TYPE_1 | 1 | RHIZOMELIC_CHONDRODYSPLASIA_PUNCTATA,_TYPE_1 |
| CHIME_syndrome | 1 | CHIME_syndrome |
| Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1 | 1 | Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1 |
| Cone-rod_dystrophy_5 | 1 | Cone-rod_dystrophy_5 |
| Anterior_segment_dysgenesis_4 | 1 | Anterior_segment_dysgenesis_4 |
| Anterior_segment_dysgenesis_1,_multiple_subtypes | 1 | Anterior_segment_dysgenesis_1,_multiple_subtypes |
| CATARACT_11,_MULTIPLE_TYPES | 1 | CATARACT_11,_MULTIPLE_TYPES |
| Fleck_retina,_familial_benign | 1 | Fleck_retina,_familial_benign |
| Microcephaly_and_chorioretinopathy,_autosomal_recessive,_2 | 1 | Microcephaly_and_chorioretinopathy,_autosomal_recessive,_2 |
| CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_Ia | 1 | CONGENITAL_DISORDER_OF_GLYCOSYLATION,_TYPE_Ia |
| Boucher-Neuhauser_syndrome | 1 | Boucher-Neuhauser_syndrome |
| Cone-rod_dystrophy_20 | 1 | Cone-rod_dystrophy_20 |
| Mitochondrial_recessive_ataxia_syndrome | 1 | Mitochondrial_recessive_ataxia_syndrome |
| Progressive_external_ophthalmoplegia,_autosomal_dominant_1 | 1 | Progressive_external_ophthalmoplegia,_autosomal_dominant_1 |
| Retinitis_pigmentosa_36 | 1 | Retinitis_pigmentosa_36 |
| Retinitis_pigmentosa_41 | 1 | Retinitis_pigmentosa_41 |
| Retinitis_pigmentosa_18 | 1 | Retinitis_pigmentosa_18 |
| Retinitis_pigmentosa_11 | 1 | Retinitis_pigmentosa_11 |
| Retinitis_pigmentosa_70 | 1 | Retinitis_pigmentosa_70 |
| Retinitis_pigmentosa_60 | 1 | Retinitis_pigmentosa_60 |
| Retinitis_pigmentosa_13 | 1 | Retinitis_pigmentosa_13 |
| Glaucoma | 1 | Glaucoma |
| Retinitis_pigmentosa_7 | 1 | Retinitis_pigmentosa_7 |
| ARTS_SYNDROME | 1 | ARTS_SYNDROME |
| Verheij_syndrome | 1 | Verheij_syndrome |
| Cone-rod_dystrophy_18 | 1 | Cone-rod_dystrophy_18 |
| Microphthalmia,_syndromic_12 | 1 | Microphthalmia,_syndromic_12 |
| Cone-rod_dystrophy_11 | 1 | Cone-rod_dystrophy_11 |
| Retinitis_pigmentosa_66 | 1 | Retinitis_pigmentosa_66 |
| Retinal_dystrophy,_iris_coloboma,_and_comedogenic_acne_syndrome | 1 | Retinal_dystrophy,_iris_coloboma,_and_comedogenic_acne_syndrome |
| Leber_congenital_amaurosis_12 | 1 | Leber_congenital_amaurosis_12 |
| Retinal_dystrophy,_juvenile_cataracts,_and_short_stature_syndrome | 1 | Retinal_dystrophy,_juvenile_cataracts,_and_short_stature_syndrome |
| Fundus_albipunctatus | 1 | Fundus_albipunctatus |
| ROTHMUND-THOMSON_SYNDROME | 1 | ROTHMUND-THOMSON_SYNDROME |
| Retinitis_pigmentosa_44 | 1 | Retinitis_pigmentosa_44 |
| Cataract_41 | 1 | Cataract_41 |
| Neonatal/Infancy-Onset_Diabetes,_Congenital_Sensorineural_Deafness,_and_Congenital_Cataracts_Syndrome | 1 | Neonatal/Infancy-Onset_Diabetes,_Congenital_Sensorineural_Deafness,_and_Congenital_Cataracts_Syndrome |
| SHORT-RIB_THORACIC_DYSPLASIA_5_WITH_OR_WITHOUT_POLYDACTYLY | 1 | SHORT-RIB_THORACIC_DYSPLASIA_5_WITH_OR_WITHOUT_POLYDACTYLY |
| Craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome | 1 | Craniofacial_anomalies_and_anterior_segment_dysgenesis_syndrome |
| Keratoconus_1 | 1 | Keratoconus_1 |
| Microphthalmia,_syndromic_11 | 1 | Microphthalmia,_syndromic_11 |
| Usher_syndrome,_type_2A | 1 | Usher_syndrome,_type_2A |
| Usher_syndrome,_type_1G | 1 | Usher_syndrome,_type_1G |
| Usher_syndrome,_type_1C | 1 | Usher_syndrome,_type_1C |
| Cataract_43 | 1 | Cataract_43 |
| Kaufman_oculocerebrofacial_syndrome | 1 | Kaufman_oculocerebrofacial_syndrome |
| Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1 | 1 | Microcephaly_and_chorioretinopathy,_autosomal_recessive,_1 |
| Microcephaly_and_chorioretinopathy,_autosomal_recessive,_3 | 1 | Microcephaly_and_chorioretinopathy,_autosomal_recessive,_3 |
| Cortical_dysplasia,_complex,_with_other_brain_malformations_7 | 1 | Cortical_dysplasia,_complex,_with_other_brain_malformations_7 |
| Retinal_dystrophy_and_obesity | 1 | Retinal_dystrophy_and_obesity |
| Cone-rod_dystrophy_19 | 1 | Cone-rod_dystrophy_19 |
| Night_blindness,_congenital_stationary_(complete),_1C,_autosomal_recessive | 1 | Night_blindness,_congenital_stationary_(complete),_1C,_autosomal_recessive |
| Hypogammaglobulinemia,_short_stature_with_microcephaly,_cataract,_and_inner_retinal_dysfunction | 1 | Hypogammaglobulinemia,_short_stature_with_microcephaly,_cataract,_and_inner_retinal_dysfunction |
| Aniridia_3 | 1 | Aniridia_3 |
| Senior-Loken_syndrome_9 | 1 | Senior-Loken_syndrome_9 |
| ADULT_SYNDROME | 1 | ADULT_SYNDROME |
| Retinitis_pigmentosa_31 | 1 | Retinitis_pigmentosa_31 |
| NANOPHTHALMOS | 1 | NANOPHTHALMOS |
| Joubert_syndrome_20 | 1 | Joubert_syndrome_20 |
| Joubert_syndrome_16 | 1 | Joubert_syndrome_16 |
| MOHR-TRANEBJAERG_SYNDROME | 1 | MOHR-TRANEBJAERG_SYNDROME |
| Sveinsson_chorioretinal_atrophy | 1 | Sveinsson_chorioretinal_atrophy |
| Corneal_dystrophy,_Fuchs_endothelial,_3 | 1 | Corneal_dystrophy,_Fuchs_endothelial,_3 |
| Corneal_dystrophy,_gelatinous_drop-like | 1 | Corneal_dystrophy,_gelatinous_drop-like |
| Retinitis_pigmentosa_33 | 1 | Retinitis_pigmentosa_33 |
| Microphthalmia_with_limb_anomalies | 1 | Microphthalmia_with_limb_anomalies |
| Retinitis_pigmentosa_68 | 1 | Retinitis_pigmentosa_68 |
| CORNEAL_DYSTROPHY,_FUCHS_ENDOTHELIAL,_4 | 1 | CORNEAL_DYSTROPHY,_FUCHS_ENDOTHELIAL,_4 |
| Albinism,_oculocutaneous,_type_IV | 1 | Albinism,_oculocutaneous,_type_IV |
| Myopia_24,_autosomal_dominant | 1 | Myopia_24,_autosomal_dominant |
| CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_NEURODEGENERATION | 1 | CONGENITAL_CATARACTS,_HEARING_LOSS,_AND_NEURODEGENERATION |
| GLUT1_deficiency_syndrome_1,_infantile_onset,_severe | 1 | GLUT1_deficiency_syndrome_1,_infantile_onset,_severe |
| Neuropathy,_hereditary_motor_and_sensory,_type_VIB | 1 | Neuropathy,_hereditary_motor_and_sensory,_type_VIB |
| SLC24A1-related_night_blindness,_congenital_stationary_ | 1 | SLC24A1-related_night_blindness,_congenital_stationary_ |
| Cataract_47,_juvenile,_with_microcornea | 1 | Cataract_47,_juvenile,_with_microcornea |
| MAC_spectrum | 1 | MAC_spectrum |
| HOLOPROSENCEPHALY_2 | 1 | HOLOPROSENCEPHALY_2 |
| Cataract_45 | 1 | Cataract_45 |
| MARINESCO-SJOGREN_SYNDROME | 1 | MARINESCO-SJOGREN_SYNDROME |
| Cone-rod_dystrophy_7 | 1 | Cone-rod_dystrophy_7 |
| Bothnia_retinal_dystrophy | 1 | Bothnia_retinal_dystrophy |
| Newfoundland_rod-cone_dystrophy | 1 | Newfoundland_rod-cone_dystrophy |
| Retinitis_pigmentosa_1 | 1 | Retinitis_pigmentosa_1 |
| Occult_macular_dystrophy | 1 | Occult_macular_dystrophy |
| Cone_dystrophy | 1 | Cone_dystrophy |
| Retinitis_pigmentosa_2 | 1 | Retinitis_pigmentosa_2 |
| Retinitis_pigmentosa_9 | 1 | Retinitis_pigmentosa_9 |
| Retinitis_pigmentosa_3 | 1 | Retinitis_pigmentosa_3 |
| Macular_degeneration,_X-linked_atrophic | 1 | Macular_degeneration,_X-linked_atrophic |
| Ribose_5-phosphate_isomerase_deficiency | 1 | Ribose_5-phosphate_isomerase_deficiency |
| Ocular_coloboma | 1 | Ocular_coloboma |
| Oguchi_disease-1 | 1 | Oguchi_disease-1 |
| Retinitis_pigmentosa_47 | 1 | Retinitis_pigmentosa_47 |
| Charcot-Marie-Tooth_disease,_type_4B2 | 1 | Charcot-Marie-Tooth_disease,_type_4B2 |
| MYOPIA_6 | 1 | MYOPIA_6 |
| Syndromic_congenital_glaucoma | 1 | Syndromic_congenital_glaucoma |
| Spastic_paraplegia_7,_autosomal_recessive | 1 | Spastic_paraplegia_7,_autosomal_recessive |
| RENAL_TUBULAR_ACIDOSIS,_PROXIMAL,_WITH_OCULAR_ABNORMALITIES_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER | 1 | RENAL_TUBULAR_ACIDOSIS,_PROXIMAL,_WITH_OCULAR_ABNORMALITIES_AND_INTELLECTUAL_DEVELOPMENTAL_DISORDER |
| Pierson_syndrome | 1 | Pierson_syndrome |
| Nephrotic_syndrome,_type_5,_with_or_without_ocular_abnormalities | 1 | Nephrotic_syndrome,_type_5,_with_or_without_ocular_abnormalities |
| Brittle_cornea_syndrome_1 | 1 | Brittle_cornea_syndrome_1 |
| ABRUZZO-ERICKSON_SYNDROME | 1 | ABRUZZO-ERICKSON_SYNDROME |
| Deafness_and_myopia | 1 | Deafness_and_myopia |
| Congenital_glaucoma | 1 | Congenital_glaucoma |
| Multisystemic_smooth_muscle_dysfunction_syndrome | 1 | Multisystemic_smooth_muscle_dysfunction_syndrome |
| Spondylometaphyseal_dysplasia_associated_with_corneal_dystrophy_and_developmental_delay_(SMDCD) | 1 | Spondylometaphyseal_dysplasia_associated_with_corneal_dystrophy_and_developmental_delay_(SMDCD) |
| Optic_atrophy_5 | 1 | Optic_atrophy_5 |
| Familial_Dysautonomia | 1 | Familial_Dysautonomia |
| Neuropathy,_hereditary_sensory_and_autonomic,_type_VI | 1 | Neuropathy,_hereditary_sensory_and_autonomic,_type_VI |
| Brain_small_vessel_disease_with_or_without_ocular_anomalies | 1 | Brain_small_vessel_disease_with_or_without_ocular_anomalies |
| Dihydropyrimidine_dehydrogenase_deficiency | 1 | Dihydropyrimidine_dehydrogenase_deficiency |
| Central_areolar_choroidal_dystrophy | 1 | Central_areolar_choroidal_dystrophy |
| North_Carolina_macular_dystrophy | 1 | North_Carolina_macular_dystrophy |
| Neuropathy,_Ataxia,_Retinitis_Pigmentosa_syndrome_ | 1 | Neuropathy,_Ataxia,_Retinitis_Pigmentosa_syndrome_ |
| SHORT-RIB_THORACIC_DYSPLASIA_6_WITH_OR_WITHOUT_POLYDACTYLY | 1 | SHORT-RIB_THORACIC_DYSPLASIA_6_WITH_OR_WITHOUT_POLYDACTYLY |
| Optic_atrophy_plus_syndrome | 1 | Optic_atrophy_plus_syndrome |
| Behr_syndrome | 1 | Behr_syndrome |
| Retinitis_pigmentosa_35 | 1 | Retinitis_pigmentosa_35 |
| SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR | 1 | SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR |
| Lattice_corneal_dystrophy_type_1 | 1 | Lattice_corneal_dystrophy_type_1 |
| Visual_impairment_and_progressive_phthisis_bulbi | 1 | Visual_impairment_and_progressive_phthisis_bulbi |
| Colobomatous_microphthalmia | 1 | Colobomatous_microphthalmia |
| Ocular_coloboma,_microphthalmia,_and_cataract | 1 | Ocular_coloboma,_microphthalmia,_and_cataract |
| Syndromic_congenital_sodium_diarrhea | 1 | Syndromic_congenital_sodium_diarrhea |
| USHER_SYNDROME | 1 | USHER_SYNDROME |
| Focal_Segmental_Glomerulosclerosis_with_Duane_Retraction_Syndrome | 1 | Focal_Segmental_Glomerulosclerosis_with_Duane_Retraction_Syndrome |
| Posterior_Polymorphous_Corneal_Dystrophy_4 | 1 | Posterior_Polymorphous_Corneal_Dystrophy_4 |
| Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_9 | 1 | Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_9 |
| SCHWARTZ-JAMPEL_SYNDROME | 1 | SCHWARTZ-JAMPEL_SYNDROME |
| Atypical_Usher_syndrome | 1 | Atypical_Usher_syndrome |
| Developmental_delays,_cataracts,_and_craniofacial_anomalies | 1 | Developmental_delays,_cataracts,_and_craniofacial_anomalies |
| Myopia | 1 | Myopia |
| ROSAH_syndrome | 1 | ROSAH_syndrome |
| MRCS_syndrome | 1 | MRCS_syndrome |
| High_hyperopia_ | 1 | High_hyperopia_ |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A4 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES_TYPE_A4 |
| MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B3 | 1 | MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_CONGENITAL_WITH_INTELLECTUAL_DEVELOPMENTAL_DISORDER_TYPE_B3 |
| Leukoencephalopathy_with_vanishing_white_matter | 1 | Leukoencephalopathy_with_vanishing_white_matter |
| Cone_dystrophy_with_supernormal_rod_responses | 1 | Cone_dystrophy_with_supernormal_rod_responses |
| Non-syndromic_retinitis_pigmenta | 1 | Non-syndromic_retinitis_pigmenta |
| Senior-Loken_syndrome | 1 | Senior-Loken_syndrome |
| Autosomal_dominant_retinal_dystrophy | 1 | Autosomal_dominant_retinal_dystrophy |
| Congenital_cataract_(monoallelic,_uncertain) | 1 | Congenital_cataract_(monoallelic,_uncertain) |
| Achromatopsia_3_(biallelic,_activating) | 1 | Achromatopsia_3_(biallelic,_activating) |
| CATARACT_22,_MULTIPLE_TYPES_(monoallelic,_uncertain) | 1 | CATARACT_22,_MULTIPLE_TYPES_(monoallelic,_uncertain) |
| Gillespie_Syndrome_(biallelic,_loss_of_function) | 1 | Gillespie_Syndrome_(biallelic,_loss_of_function) |
| SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA_(biallelic,_all_missense/in_frame) | 1 | SPONDYLOEPIPHYSEAL_DYSPLASIA_CONGENITA_(biallelic,_all_missense/in_frame) |
| CATARACT_5,_MULTIPLE_TYPES_(biallelic,_uncertain) | 1 | CATARACT_5,_MULTIPLE_TYPES_(biallelic,_uncertain) |
| Duane_retraction_syndrome_3_(monoallelic,_dominant_negative) | 1 | Duane_retraction_syndrome_3_(monoallelic,_dominant_negative) |
| CATARACT_12,_MULTIPLE_TYPES_(biallelic,_all_missense/in_frame) | 1 | CATARACT_12,_MULTIPLE_TYPES_(biallelic,_all_missense/in_frame) |
| Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation_(monoallelic,_dominant_negative) | 1 | Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation_(monoallelic,_dominant_negative) |
| MICROPHTHALMIA,_SYNDROMIC_14_(monoallelic,_activating) | 1 | MICROPHTHALMIA,_SYNDROMIC_14_(monoallelic,_activating) |
| Cataract_33,_multiple_types_(monoallelic,_uncertain) | 1 | Cataract_33,_multiple_types_(monoallelic,_uncertain) |
Format: map
Web label: gene2phenotype
Web label: key| (|count|): |desc
| Filename | Size | md5 |
|---|---|---|
| CancerG2P_9_9_2024.csv | 40.78 KB | 59ff39474611412a667078c6e9f60cb2 |
| CardiacG2P_2024-08-28.csv | 146.22 KB | a2efcdc9d134907ab08c884713cc9261 |
| DDG2P_2024-08-28.csv | 1.04 MB | fe340139e731a5cd496a0364084dbeba |
| EyeG2P_2024-08-28.csv | 314.01 KB | fb05158484439edb750671686fb59d3d |
| SkeletalG2P_2024-08-28.csv | 192.88 KB | 7b1037695ec6aca550776b8a347fb6c3 |
| SkinG2P_2024-08-28.csv | 245.83 KB | 19a1ac669865fc3bca2e91fb05e86721 |
| dataprep1.py | 1.89 KB | 25997ecfe0aafe2e74fb1f67498daa10 |
| gene2phenotype-map.txt | 160.88 KB | 69818d6f071625ed0af8614e64a540f3 |
| gene2phenotype-mapnames.txt | 266.26 KB | 0cc7ae167dabc0b6ca6d2483553e27e0 |
| gene2phenotype.csv | 1.92 MB | 17149db52e7ec4fcefe74f580b46dfc1 |
| genomic_resource.yaml | 2.17 KB | 1f237f6be7407ee204212be184e7f138 |
| statistics/ |