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:
expandCataract (D002386)
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandDevelopmental Disabilities (D002658)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHeart Defects, Congenital (D006330)
Parent Node:
expandNeural Tube Defects (D009436)
..Starting node
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)

       Child Nodes:



 Sister Nodes: 
..expandAcalvaria (C535570)
..expandAnencephaly (D000757) Child4
..expandArnold-Chiari Malformation (D001139) Child1
..expandCraniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..expandEncephalocele (D004677) Child24
..expandMeningocele (D008588) Child5
..expandMeningomyelocele (D008591) Child3
..expandMidline Defects, X-Linked (C564054)
..expandNeural tube defects X-linked (C536410)
..expandPentalogy of Cantrell (D058502)
..expandSpinal Dysraphism (D016135) Child10
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2815
Name:Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D002658|MESH:D006130|MESH:D006330|MESH:D009436|MESH:D019465
TreeNumbers:C05.660.207/C564271 |C10.500.680/C564271 |C11.510.245/C564271 |C14.240.400/C564271 |C14.280.400/C564271 |C16.131.240.400/C564271 |C16.131.621.207/C564271 |C16.131.666.680/C564271 |C23.550.393/C564271 |F03.550.362/C564271
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Eye disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)
Reference: MedGen: C564271
MeSH: C564271
OMIM: 608227;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0001631Atrial septal defect
4 HP:0000518Cataract
5 HP:0002750Delayed skeletal maturation
6 HP:0000501Glaucoma
7 HP:0001263Global developmental delay
8 HP:0000540Hypermetropia
9 HP:0001276Hypertonia
10 HP:0001252Hypotonia
11 HP:0003186Inverted nipples
12 HP:0000294Low anterior hairline
13 HP:0000347Micrognathia
14 HP:0011398obsolete Central hypotonia
15 HP:0000960Sacral dimple
16 HP:0002650Scoliosis
17 HP:0000322Short philtrum
18 HP:0000179Thick lower lip vermilion
19 HP:0001629Ventricular septal defect
20 HP:0001566Widely-spaced maxillary central incisors
Disease Causing ClinVar Variants