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Ontology Browser
Term:
frontonasal dysplasia with alopecia and genital anomaly (EFO:MONDO:0013268)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
acromelic frontonasal dysostosis 
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
ANE syndrome 
autosomal dominant deafness - onychodystrophy syndrome 
Bartholin duct cyst 
Bartholin gland neoplasm +  
breast fibrocystic disease +   
breast neoplasm +   
craniofrontonasal dysplasia-Poland anomaly syndrome 
cutaneous mycosis +   
cutis laxa +  
disorder of pilosebaceous unit +   
familial atypical multiple mole melanoma syndrome 
familial tumoral calcinosis +  
frontofacionasal dysplasia 
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 
frontonasal dysplasia with alopecia and genital anomaly 
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
frontorhiny 
ichthyosis prematurity syndrome 
integumentary system benign neoplasm +   
integumentary system cancer +   
keratinization disease +   
keratoderma hereditarium mutilans 
mandibulofacial dysostosis with alopecia 
mucosulfatidosis 
nail disorder +   
Neu-Laxova syndrome +  
oculoauriculofrontonasal syndrome 
Pai syndrome 
paraneoplastic cutaneous syndrome +  
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
Proteus-like syndrome 
pseudoxanthoma elasticum (inherited or acquired) +  
Rombo syndrome 
Sjogren-Larsson syndrome 
skin appendage disorder +   
skin disease +   
subcutaneous tissue disorder +   
X-linked ichthyosis syndrome +  

Synonyms
Exact Synonyms: ALX4-related FNDAG ;   DOID:0081046 ;   Orphanet:228390 ;   craniofrontonasal dysplasia with alopecia and hypogonadism ;   frontonasal dysplasia type 2 ;   frontonasal dysplasia with alopecia and genital abnomality ;   http://identifiers.org/medgen/462053 ;   http://identifiers.org/snomedct/725029001 ;   http://linkedlifedata.com/resource/umls/id/C3150703 ;   https://omim.org/entry/613451
Related Synonyms: FND2 ;   frontonasal dysplasia 2
Alternate IDs: MONDO:0013268
Xrefs: DOID:0081046 ;   GARD:12641 ;   MEDGEN:462053 ;   MIM:613451 ;   ORDO:228390 ;   SCTID:725029001 ;   UMLS:C3150703
see_also: https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly" xsd:anyURI {source="GARD:0012641
Definition Sources: Orphanet:228390

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