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:
expandBlindness, Cortical (D019575)
Parent Node:
expandFacies (D019066)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandPolydactyly (D017689)
..Starting node
..expandCortical Blindness, Retardation, and Postaxial Polydactyly (C565674)

       Child Nodes:



 Sister Nodes: 
..expandAbsence of tibia with polydactyly (C535564)
..expandBiemond Syndrome II (C565902)
..expandBiemond syndrome type 2 (C535439)
..expandBrachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..expandCortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..expandCrossed Polydactyly, Type I (C566783)
..expandDandy Walker malformation postaxial polydactyly (C535771)
..expandDesbuquois syndrome (C535943)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandGarret Tripp syndrome (C535646)
..expandHirschsprung disease polydactyly heart disease (C538120)
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..expandHoloprosencephaly 9 (C563659)
..expandHydrolethalus Syndrome 1 (C565504)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLaurence Prosser Rocker syndrome (C537882)
..expandLiver Fibrocystic Disease and Polydactyly (C565272)
..expandMaroteaux Fonfria syndrome (C536023)
..expandMcKusick Kaufman syndrome (C538159)
..expandMeckel Syndrome, Type 4 (C567003)
..expandMeckel-Like Cerebrorenodigital Syndrome (C567004)
..expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandMexican Cardiomelic Dysplasia (C563087)
..expandOliver Syndrome (C564931)
..expandPallister-Hall Syndrome (D054975)
..expandPfeiffer Mayer syndrome (C537888)
..expandPolydactyly myopia syndrome (C536331)
..expandPolydactyly preaxial type 1 (C536332)
..expandPolydactyly, Postaxial (C562429)
..expandPolydactyly, Postaxial, Type A2 (C566585)
..expandPolydactyly, Postaxial, Type A3 (C564590)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandPolydactyly, preaxial 4 (C536333)
..expandPOLYDACTYLY, PREAXIAL II (OMIM:174500)
..expandPolydactyly, Preaxial III (C566784)
..expandPolysyndactyly, Crossed (C566773)
..expandPreaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..expandPreaxial Hallucal Polydactyly (C566632)
..expandPseudotrisomy 13 syndrome (C535829)
..expandSantos Mateus Leal syndrome (C537235)
..expandSantos Syndrome (C567819)
..expandScalp defects postaxial polydactyly (C536622)
..expandShort Rib-Polydactyly Syndrome (D012779) Child3
..expandSHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandSynpolydactyly 2 (C564278)
..expandSynpolydactyly 3 (C565216)
..expandSynpolydactyly With Foot Anomalies (C566095)
..expandThai Symphalangism Syndrome (C564303)
..expandTibia absent polydactyly arachnoid cyst (C536918)
..expandTibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..expandTibia, Hypoplasia of, with Polydactyly (C566046)
..expandUlnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..expandUrioste Martinez-Frias syndrome (C536478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2776
Name:Cortical Blindness, Retardation, and Postaxial Polydactyly
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D017689|MESH:D019066|MESH:D019575
TreeNumbers:C05.660.585.600/C565674 |C10.597.606.643/C565674 |C10.597.751.941.162.250/C565674 |C11.966.075.250/C565674 |C16.131.621.585.600/C565674 |C23.550.291.812/C565674 |C23.888.592.604.646/C565674 |C23.888.592.763.941.162.250/C565674 |F03.550.600/C565674
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C565674
MeSH: C565674
OMIM: 218010;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0100704Cerebral visual impairment
3 HP:0002007Frontal bossing
4 HP:0001263Global developmental delay
5 HP:0001507Growth abnormality
6 HP:0000343Long philtrum
7 HP:0000308Microretrognathia
8 HP:0011220Prominent forehead
9 HP:0003196Short nose
Disease Causing ClinVar Variants