About: branchiooculofacial syndrome     Goto   Sponge   NotDistinct   Permalink

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autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts

AttributesValues
rdf:type
description
  • Krankheit (de)
  • malattia (it)
  • хвороба (uk)
  • avtosomno dominantna bolezen, za katero so značilni nizka porodna teža in zaostanek v rasti ter obojestranski branhialni razcep (sl)
  • maladie génétique autosomique dominante caractérisée par des malformations au visage, notamment au niveau des oreilles, du cou et des yeux, et une croissance lente. (fr)
  • autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts (en)
exact match
exact match
Mondo ID
Disease Ontology ID
Mondo ID
Disease Ontology ID
Mondo ID
  • MONDO_0007235
Disease Ontology ID
  • DOID:0050691
rdfs:label
  • BOF sendromu (tr)
  • Zespół BOFS (pl)
  • branchiooculofacial syndrome (en)
  • branhiookulofacialni sindrom (sl)
  • متلازمة الخيشوم والبصر الوجهية (ar)
  • syndrome branchio-oculo-facial (fr)
skos:prefLabel
  • BOF sendromu (tr)
  • Zespół BOFS (pl)
  • branchiooculofacial syndrome (en)
  • branhiookulofacialni sindrom (sl)
  • متلازمة الخيشوم والبصر الوجهية (ar)
  • syndrome branchio-oculo-facial (fr)
name
  • BOF sendromu (tr)
  • Zespół BOFS (pl)
  • branchiooculofacial syndrome (en)
  • branhiookulofacialni sindrom (sl)
  • متلازمة الخيشوم والبصر الوجهية (ar)
  • syndrome branchio-oculo-facial (fr)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H00817
UniProt disease ID
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-01294
Orphanet ID
  • 1297
ICD-9-CM
  • 759.89
genetic association
ICD-10-CM
  • Q18.8
GARD rare disease ID
  • 3212
OMIM ID
  • 113620
Genetics Home Reference Conditions ID
  • branchio-oculo-facial-syndrome
skos:altLabel
  • BOFS (en)
  • Branchio-oculo-facial syndrome (en)
  • Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging (en)
  • Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging (en)
  • BOFS (fr)
  • BOFS (sl)
  • BOFS syndrome (en)
  • BRANCHIOOCULOFACIAL SYNDROME (en)
  • BRANCHIOOCULOFACIAL SYNDROME; BOFS (en)
  • Bof Syndrome (en)
  • Zespół skrzelowo-oczno-twarzowy (pl)
  • sindrom BOFS (sl)
  • Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome (en)
  • Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome (en)
UMLS CUI
on focus list of Wikimedia project
Microsoft Academic ID
ICD-11 (foundation)
Microsoft Academic ID
UMLS CUI
  • C0376524
on focus list of Wikimedia project
Microsoft Academic ID
  • 2780645412
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