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Orofaciodigital Syndrome I (MONDO:0010702)

Open Trait in OLS

A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:11845

Synonyms

OFD syndrome 1

OFD1

OFDI

OFDS 1

OFDSI

Papillon-Leage and Psaume syndrome

Papillon-Léage-Psaume syndrome

Papillon-league-Psaume syndrome (formerly)

oral facial digital syndrome 1

oral facial digital syndrome type 1

oral-facial-digital syndrome 1

oral-facial-digital syndrome type 1

oral-facial-digital syndrome, type 1

orofaciodigital syndrome 1

orofaciodigital syndrome I

orofaciodigital syndrome i, X-linked dominant

orofaciodigital syndrome type 1

orofaciodigital syndrome type I

Mapped terms

DOID:0060316

GARD:0004121

MEDGEN:307142

MESH:C537134

NCIT:C75481

OMIM:311200

Orphanet:2750

SCTID:763833006

UMLS:C1510460

Child terms

Unknown children.