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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandDwarfism (D004392)
Parent Node:
expandFacies (D019066)
Parent Node:
expandOsteochondritis (D010007)
..Starting node
..expandRuvalcaba Syndrome (C579395)

       Child Nodes:



 Sister Nodes: 
..expandFreiberg's disease (C535636)
..expandNathalie syndrome (C538342)
..expandOsteochondritis Dissecans (D010008) Child2
..expandRuvalcaba Syndrome (C579395)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9927
Name:Ruvalcaba Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D004392|MESH:D010007|MESH:D019066
TreeNumbers:C05.116.099.343/C579395 |C05.116.791/C579395 |C05.182.520/C579395 |C16.131.077/C579395 |C16.320.240/C579395 |C17.300.182.520/C579395 |C19.297/C579395 |C23.550.291.812/C579395
Synonyms:
Slim Mappings:Congenital abnormality|Connective tissue disease|Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C579395
MeSH: C579395
OMIM: 180870;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000769Abnormality of the breast
3 HP:0000028Cryptorchidism
4 HP:0000823Delayed puberty
5 HP:0000678Dental crowding
6 HP:0000494Downslanted palpebral fissures
7 HP:0000023Inguinal hernia
8 HP:0001249Intellectual disability
9 HP:0002808Kyphosis
10 HP:0001377Limited elbow extension
11 HP:0000252Microcephaly
12 HP:0002983Micromelia
13 HP:0000774Narrow chest
14 HP:0000460Narrow nose
15 HP:0000556Retinal dystrophy
16 HP:0002650Scoliosis
17 HP:0001773Short foot
18 HP:0010049Short metacarpal
19 HP:0010743Short metatarsal
20 HP:0004279Short palm
21 HP:0009803Short phalanx of finger
22 HP:0004322Short stature
23 HP:0200055Small hand
24 HP:0000430Underdeveloped nasal alae
Disease Causing ClinVar Variants