Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandArterial Occlusive Diseases (D001157)
Parent Node:
expandBrachydactyly (D059327)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandHypertension (D006973)
Parent Node:
expandSyndactyly (D013576)
..Starting node
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSTAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandSynpolydactyly 1 (C566094)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:880
Name:Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
Definition:
Alternative IDs:
ParentIDs:MESH:D001157|MESH:D006330|MESH:D006973|MESH:D013576|MESH:D059327
TreeNumbers:C05.116.099.370.894.819/C566529 |C05.660.585.262/C566529 |C05.660.585.800/C566529 |C05.660.906.819/C566529 |C14.240.400/C566529 |C14.280.400/C566529 |C14.907.137/C566529 |C14.907.489/C566529 |C16.131.240.400/C566529 |C16.131.621.585.262/C566529 |C16.131.621.585.80
Synonyms:Grange Occlusive Arterial Syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C566529
MeSH: C566529
OMIM: 602531;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001647Bicuspid aortic valveHP:0040283
3 HP:0001156Brachydactyly
4 HP:0005145Coronary artery stenosisHP:0040283
5 HP:0004325Decreased body weight
6 HP:0001249Intellectual disability
7 HP:0002757Recurrent fractures
8 HP:0001920Renal artery stenosis
9 HP:0100817Renovascular hypertension
10 HP:0001159Syndactyly
Disease Causing ClinVar Variants