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:
expand
Abnormalities, Multiple (D000015)
Parent Node:
expand
Alopecia (D000505)
..Starting node
..expand
Woolly hair, hypotrichosis, everted lower lip and outstanding ears (C536746)

       Child Nodes:



 Sister Nodes: 
..expandAlopecia Areata (D000506) Child3
..expandAlopecia congenita keratosis palmoplantaris (C537050)
..expandAlopecia contractures dwarfism mental retardation (C537051)
..expandAlopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..expandAlopecia hypogonadism extrapyramidal disorder (C537053)
..expandAlopecia universalis (C537055)
..expandAlopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia (C563920)
..expandAlopecia universalis onychodystrophy vitiligo (C537056)
..expandAlopecia, Androgenetic, 2 (C567473)
..expandAlopecia, Androgenetic, 3 (C567317)
..expandAlopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..expandAlopecia, Familial Focal (C566301)
..expandAlopecia, Neurologic Defects, and Endocrinopathy Syndrome (C567425)
..expandAlopecia-Mental Retardation Syndrome 1 (C565965)
..expandAlopecia-Mental Retardation Syndrome 2 (C563668)
..expandALOPECIA-MENTAL RETARDATION SYNDROME 3 (OMIM:613930)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandAtrichia with Papular Lesions (C565924)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCataract, alopecia, sclerodactyly (C535336)
..expandCerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..expandCongenital alopecia X-linked (C535981)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandEctodermal dysplasia alopecia preaxial polydactyly (C538016)
..expandEctodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..expandFollicular hamartoma alopecia cystic fibrosis (C537071)
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
..expandGarret Tripp syndrome (C535646)
..expandGlomerulonephritis sparse hair telangiectases (C536825)
..expandGomez Lopez Hernandez syndrome (C537285)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHypergonadotropic Hypogonadism And Partial Alopecia (C567109)
..expandIchthyosis follicularis atrichia photophobia syndrome (C536085)
..expandIchthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
..expandJagell Holmgren Hofer syndrome (C537364)
..expandJohnson neuroectodermal syndrome (C535882)
..expandKeratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (C567553)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLoose Anagen Hair Syndrome (D058247) Child2
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMoloney syndrome (C535810)
..expandMucinosis, Follicular (D000507)
..expandPARC syndrome (C537174)
..expandPatel Bixler syndrome (C536306)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandSatoyoshi syndrome (C536616)
..expandScholte syndrome (C536638)
..expandSlti Salem syndrome (C536673)
..expandT-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..expandThumb Deformity And Alopecia (C566054)
..expandThumb deformity, alopecia, pigmentation anomaly (C536904)
..expandTotal Hypotrichosis, Mari type (C536973)
..expandUrban Schosser Spohn syndrome (C536476)
..expandWoodhouse Sakati syndrome (C536742)
..expandWoolly hair, hypotrichosis, everted lower lip and outstanding ears (C536746)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11790
Name:Woolly hair, hypotrichosis, everted lower lip and outstanding ears
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D000505
TreeNumbers:C16.131.077/C536746 |C17.800.329.937.122/C536746 |C23.300.035/C536746
Synonyms:Salamon Syndrome |Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Slim Mappings:Congenital abnormality|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C536746
MeSH: C536746
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants