Leber's amaurosis, Leber congenital amaurosis, LCA, amaurosis congenita of Leber, Leber's congenital amaurosis, Leber's disease

22q deletion syndrome(s), DiGeorge syndrome, Di-George syndrome, DGS, DiGeorge anomaly, DiGeorge's syndrome, pharyngeal pouch syndrome, DGS1, DiGeorge syndrome type 1, 22q11.2 Deletion syndrome

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

acute myelogenous leukemias, hematopoeitic - acute Myleogenous leukemia (AML), acute myelocytic leukemia, acute myeloid leukemia, acute nonlymphocytic leukemia, hematopoeitic - acute Myleogenous leukaemia (AML), leukemia, acute myeloid, reduced survival in, somatic, AML - acute myeloid leukemia, acute myeloid leukaemia (AML), acute myelogenous leukaemia, acute Nonlymphocytic leukemia, acute myeloblastic leukemia, leukemia, acute myeloid, autosomal dominant, somatic mutation, acute myelocytic leukaemia, acute myeloid leukemia, somatic, leukemia, myelocytic, acute, acute myelogenous leukemia, myeloid leukemia, acute, M4/M4Eo subtype, somatic, acute myeloblastic leukaemia, AML, myeloid leukemia, acute, AML - acute myeloid leukaemia, leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation, acute nonlymphocytic leukaemia, leukemia, acute myeloid, somatic, ANLL, acute myeloid leukemia (AML), acute granulocytic leukaemia, acute granulocytic leukemia, acute Nonlymphocytic leukaemia

muscle-eye-brain-GMPPB related

Nestor-Guillermo progeria syndrome, BANF1-related neurodevelopmental syndrome, NGPS

neuronal ceroid lipofuscinosis caused by mutation in Grn, ceroid lipofuscinosis, neuronal, type 11, CLN11, neuronal ceroid lipofuscinosis caused by mutation in GRN, Grn neuronal ceroid lipofuscinosis, GRN neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis type 11

hyperparathyroidism type 1, hyperparathyroidism 1, hyperparathyroidism, familial primary

PRPF31 retinitis pigmentosa, retinitis pigmentosa type 11, retinitis pigmentosa 11, RP11, retinitis pigmentosa caused by mutation in PRPF31

lethal ataxia with deafness and optic atrophy, Arts syndrome, Arts, ARTS, MRXSARTS, syndromic X-linked mental retardation Arts type, syndromic X-linked intellectual disability 18, fatal X-linked ataxia with deafness and loss of vision, syndromic X-linked mental retardation 18, Arts syndrome, X-linked recessive, syndromic X-linked intellectual disability Arts type, MRXS18

POF17, premature ovarian failure 17

CMD, MDC

PCD, ciliary motility disorder, Kartagener's syndrome, Kartagener syndrome, immotile ciliary syndrome

disorder of organic acid metabolism, disorder of organic acid metabolic process, organic acid metabolism disorder, organic acid metabolic process disease

DK1-congenital disorder of glycosylation, congenital disorder of glycosylation type Im, CDG syndrome type Im, dolichol kinase deficiency, CDG-Im, congenital disorder of glycosylation type 1m, carbohydrate deficient glycoprotein syndrome type Im, CDG1M, DK1-CDG, hypotonia and ichthyosis due to dolichol phosphate deficiency

Dowling-Degos disease caused by mutation in KRT5, KRT5 Dowling-Degos disease, Dowling-Degos disease 1

ketotic glycinemia, GLYCINEMIA, ketotic, ketotic II glycinemia, ketotic hyperglycinemia, propionic aciduria, propionyl-CoA carboxylase deficiency, propionic acidemia

CMT4H, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H, FGD4 Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth neuropathy type 4H, autosomal recessive Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4

neurodegeneration with brain iron accumulation, NBIA

retinitis pigmentosa 2, retinitis pigmentosa type 2, RP2 retinitis pigmentosa, retinitis pigmentosa caused by mutation in RP2, RP2

primary ciliary dyskinesia caused by mutation in ZMYND10, CILD22, primary ciliary dyskinesia type 22, ciliary dyskinesia, primary, type 22, ZMYND10 primary ciliary dyskinesia, primary ciliary dyskinesia 22 with or without situs inversus

atrial fibrillation (disease), atrial fibrillation, AFib, A-fib, AF

maturity-onset diabetes of the young (disease) caused by mutation in GCK, MODY type 2, MODY, type II, MODY glucokinase-related, glucokinase-associated diabetes mellitus, GCK-associated diabetes mellitus, MODY 2 monogenic diabetes type 2, MODY2, GCK maturity-onset diabetes of the young (disease), maturity onset diabetes of the Young, type 2