released

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

MONDO:0018998

Leber congenital amaurosis

ff8ddf4a-fe1a-4580-a01b-af318d4a81ed

released

MONDO:0019942

distal arthrogryposis

ff32724d-cd85-40aa-a85d-efa2ceb51a03

released

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

MONDO:0008564

DiGeorge syndrome

fe463bf9-edd2-4a32-867e-8aca19cf443f

released

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

MONDO:0013761

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

fdf4cc58-f3a2-46dc-ba23-666deb5d31c7

released

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

MONDO:0018874

acute myeloid leukemia

fdc077e2-52af-48ec-a9d4-70660932ad99

released

muscle-eye-brain-GMPPB related

MONDO:0014140

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

fda43c6a-9a40-4f85-bc8b-3ddb65ae06a1

released

Nestor-Guillermo progeria syndrome, NGPS

MONDO:0013523

Nestor-Guillermo progeria syndrome

fd3ea378-2e28-42b8-b2b9-1e59d9b40408

released

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

MONDO:0013866

neuronal ceroid lipofuscinosis 11

fc2760c5-1fc9-457c-9d5c-1f47699435d6

released

hyperparathyroidism type 1, hyperparathyroidism, familial primary, hyperparathyroidism 1

MONDO:0007767

hyperparathyroidism 1

f79febb4-f4f3-4788-9cd3-f5f376732765

released

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

MONDO:0010828

retinitis pigmentosa 11

f69a1c0f-d6df-4aaf-ab34-b379994af033

released

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

MONDO:0010533

Arts syndrome

f5f2db9d-a2c6-4ab7-b645-c1f14b2c93f8

released

POF17, premature ovarian failure 17

MONDO:0030870

premature ovarian failure 17

f55bac19-e620-486d-a1c5-b52dd4ac4341

released

CMD, MDC

MONDO:0019950

congenital muscular dystrophy

f4d4e02b-c423-4d45-9a7a-38b0470a7828

released

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

MONDO:0016575

primary ciliary dyskinesia

f2d3234b-0731-40d8-a9d7-6f6c76823298

released

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

MONDO:0045022

disorder of organic acid metabolism

f16ceb69-94c7-4575-8b5d-9617e937f710

released

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

MONDO:0012556

DK1-congenital disorder of glycosylation

f0be2091-1c84-4220-b906-eacf14d5ca06

released

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

MONDO:0024534

Dowling-Degos disease 1

eed6a20c-5635-4ecb-bc78-b08df3490a71

released

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

MONDO:0011628

propionic acidemia

ed367f88-b7bf-4099-b4bc-b472fec327c7

released

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

MONDO:0012250

Charcot-Marie-Tooth disease type 4H

ecf70d8d-0f8c-49d8-903d-bfe450e0e937

released

neurodegeneration with brain iron accumulation, NBIA

MONDO:0018307

neurodegeneration with brain iron accumulation

ea745b2b-ef4b-416d-836b-65b1ac3aff10

released

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

MONDO:0010723

retinitis pigmentosa 2

e9454d0a-434e-4800-a91b-4291f2d3fec7

released

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

MONDO:0014192

primary ciliary dyskinesia 22

e911c755-bf87-43b0-9c4c-b133a83fffdf

released

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

MONDO:0004981

atrial fibrillation

e90f7cab-e69c-4a85-917c-5d071a3d8d30

released

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

MONDO:0007453

maturity-onset diabetes of the young type 2

e902acad-4010-4d36-8a4d-cf0d30692f44

released

MONDO:0011842

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

e6fc221f-f04a-45ae-9df8-3dc11822fe81