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

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

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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

muscle-eye-brain-GMPPB related

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

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

hyperparathyroidism type 1, hyperparathyroidism 1, hyperparathyroidism, familial primary

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

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

POF17, premature ovarian failure 17

CMD, MDC

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

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

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

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

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

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

neurodegeneration with brain iron accumulation, NBIA

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

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

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

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