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:
expandBlepharophimosis (D016569)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandSkin Abnormalities (D012868)
Parent Node:
expandSyndactyly (D013576)
..Starting node
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)

       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:1318
Name:Blepharophimosis with ptosis, syndactyly, and short stature
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D012868|MESH:D013576|MESH:D016569
TreeNumbers:C05.116.099.370.894.819/C536235 |C05.660.585.800/C536235 |C05.660.906.819/C536235 |C11.250.090/C536235 |C11.338.190/C536235 |C16.131.384.190/C536235 |C16.131.621.585.800/C536235 |C16.131.621.906.819/C536235 |C16.131.831/C536235 |C17.800.804/C536235 |C23.550.393/C5
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease|Pathology (process)|Skin disease
Reference: MedGen: C536235
MeSH: C536235
OMIM: 210745;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001760Abnormal foot morphology
3 HP:0000458Anosmia
4 HP:0000581Blepharophimosis
5 HP:0010554Cutaneous finger syndactyly
6 HP:0000565Esotropia
7 HP:0004661Frontalis muscle weakness
8 HP:0006889Intellectual disability, borderline
9 HP:0000303Mandibular prognathia
10 HP:0000508Ptosis
11 HP:0004322Short stature
12 HP:0000664Synophrys
13 HP:0000574Thick eyebrow
14 HP:0000179Thick lower lip vermilion
15 HP:0007715Weak extraocular muscles
16 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants