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

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

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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

muscle-eye-brain-GMPPB related

Nestor-Guillermo progeria syndrome, NGPS

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

hyperparathyroidism type 1, hyperparathyroidism, familial primary, hyperparathyroidism 1

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

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

POF17, premature ovarian failure 17

CMD, MDC

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

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

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

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

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

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

neurodegeneration with brain iron accumulation, NBIA

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

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

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

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