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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Hallermann-Streiff syndrome
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Accession:EFO:MONDO:0009318 term browser browse the term
Definition:Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Synonyms:exact_synonym: DOID:4534;   FranC'ois dyscephalic syndrome;   Francois dyscephalic syndrome;   François dyscephalic syndrome;   Hallerman - Streiff syndrome;   Hallermann syndrome;   Hallermann's syndrome;   NCIT:C84746;   Orphanet:2108;   http://identifiers.org/medgen/5414;   http://identifiers.org/mesh/D006210;   http://identifiers.org/snomedct/7903009;   http://linkedlifedata.com/resource/umls/id/C0018522;   https://omim.org/entry/234100;   oculomandibulofacial syndrome
 related_synonym: HSS;   Hallermann Streiff Francois syndrome
 alt_id: MONDO:0009318
 xref: DOID:4534;   GARD:288;   MEDGEN:5414;   MESH:D006210;   MIM:234100;   NANDO:2200973;   NCI:C84746;   NORD:1888;   ORDO:2108;   SCTID:7903009;   UMLS:C0018522
 see_also: https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome" xsd:anyURI {source="GARD:0000288


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        disease 0
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  experimental factor 0
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                  primordial dwarfism and slender bone disorder 0
                    Hallermann-Streiff syndrome 0
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