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:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandMandibulofacial Dysostosis (D008342)
Parent Node:
expandTooth, Supernumerary (D014096)
..Starting node
..expandAcrofacial dysostosis, Palagonia type (C538185)

       Child Nodes:



 Sister Nodes: 
..expandAcrofacial dysostosis Catania form (C538182)
..expandAcrofacial dysostosis, Palagonia type (C538185)
..expandLyngstadaas syndrome (C537490)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:189
Name:Acrofacial dysostosis, Palagonia type
Definition:
Alternative IDs:
ParentIDs:MESH:D006228|MESH:D008342|MESH:D014096
TreeNumbers:C05.116.099.370.231.576/C538185 |C05.390.408/C538185 |C05.660.207.231.576/C538185 |C05.660.585.988.425/C538185 |C07.650.800.850/C538185 |C07.793.700.850/C538185 |C16.131.621.207.231.576/C538185 |C16.131.621.585.425/C538185 |C16.131.850.800.850/C538185
Synonyms:Palagonia type of acrofacial dysostosis
Slim Mappings:Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: C538185
MeSH: C538185
OMIM: 601829;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003468Abnormal vertebral morphology
3 HP:0001057Aplasia cutis congenita
4 HP:0000204Cleft upper lip
5 HP:0010554Cutaneous finger syndactyly
6 HP:0003311Hypoplasia of the odontoid process
7 HP:0000272Malar flattening
8 HP:0000677Oligodontia
9 HP:0003777Pili torti
10 HP:0011220Prominent forehead
11 HP:0002650Scoliosis
12 HP:0010044Short 4th metacarpal
13 HP:0004322Short stature
14 HP:0045075Sparse eyebrow
15 HP:0004614Spina bifida occulta at S1
16 HP:0100333Unilateral cleft lip
Disease Causing ClinVar Variants