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