Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAlopecia (D000505)
Parent Node:
expandDeafness (D003638)
Parent Node:
expandHypogonadism (D007006)
Parent Node:
expandNeurocutaneous Syndromes (D020752)
Parent Node:
expandOlfaction Disorders (D000857)
..Starting node
..expandJohnson neuroectodermal syndrome (C535882)

       Child Nodes:



 Sister Nodes: 
..expandCongenital anosmia (C535983)
..expandJohnson neuroectodermal syndrome (C535882)
..expandMusk, Inability to Smell (C564980)
..expandNeuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5970
Name:Johnson neuroectodermal syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D000857|MESH:D003638|MESH:D007006|MESH:D020752
TreeNumbers:C09.218.458.341.186/C535882 |C10.562/C535882 |C10.597.751.418.341.186/C535882 |C10.597.751.600/C535882 |C16.131.077.350.712/C535882 |C16.131.831.350.712/C535882 |C16.320.850.250.712/C535882 |C17.800.329.937.122/C535882 |C17.800.804.350.712/C535882 |C17.800.827.25
Synonyms:AADH syndrome |Alopecia anosmia deafness hypogonadism syndrome |Alopecia-Anosmia-Deafness-Hypogonadism Syndrome |Johnson-Mcmillin syndrome
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease
Reference: MedGen: C535882
MeSH: C535882
OMIM: 147770;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0030680Abnormality of cardiovascular system morphology
3 HP:0002223Absent eyebrow
4 HP:0000561Absent eyelashes
5 HP:0001596Alopecia
6 HP:0000458Anosmia
7 HP:0000413Atresia of the external auditory canal
8 HP:0000670Carious teeth
9 HP:0000452Choanal stenosisHP:0040283
10 HP:0000175Cleft palate
11 HP:0000405Conductive hearing impairment
12 HP:0008734Decreased testicular sizeHP:0040283
13 HP:0000324Facial asymmetry
14 HP:0010628Facial palsy
15 HP:0001510Growth delay
16 HP:0000044Hypogonadotropic hypogonadism
17 HP:0000966Hypohidrosis
18 HP:0001249Intellectual disability
19 HP:0000252MicrocephalyHP:0040283
20 HP:0000054MicropenisHP:0040283
21 HP:0008551Microtia
22 HP:0007565Multiple cafe-au-lait spots
23 HP:0001643Patent ductus arteriosusHP:0040283
24 HP:0000411Protruding ear
25 HP:0000278RetrognathiaHP:0040283
26 HP:0012020Right aortic archHP:0040283
27 HP:0004322Short stature
28 HP:0008070Sparse hairHP:0040283
29 HP:0001629Ventricular septal defectHP:0040283
Disease Causing ClinVar Variants