Frontorhiny
Facts
6 properties- Instance of
- rare disease, class of disease[6]
- Subclass of
- median facial cleft, rare head and neck malformation, midface dysplasia, developmental defect during embryogenesis, head and neck disease[7]
- Age of onset
- neonatal onset[9]
- Has phenotype
- cleft palate, hypertelorism, widow's peak, strabismus, ptosis, cataract, coloboma of iris, brachydactyly, scoliosis, lumbar lordosis, corpus callosum lipoma, Wikidata item, Wikidata item, dermoid cyst, Camptodactyly of finger, diabetes insipidus, hypopituitarism[10][11][12][13][14][15][16][17][18][19][20][21][22][23]
- P14914
- D391474[24]
🏷️ Also known as
en ALX3-related frontonasal dysplasia
en FND1
en Frontonasal Dysplasia
en FRONTONASAL DYSPLASIA 1
en FRONTONASAL DYSPLASIA 1; FND1
en Frontonasal Dysplasia type 1
en Frontonasal Malformation
en Frontorhiny
en Isolated median cleft face syndrome
en Median Facial Cleft Syndrome
fr frontorhinie
🔖 Identifiers · 8
- Exact match
- www.orpha.net
- ICD-10-CM
- Q75.8
- KEGG ID
- H00850
- Mondo ID
- MONDO_0007636
- OMIM ID
- 136760
- Orphanet ID
- 391474
- UMLS CUI
- C1876203
- UniProt disease ID
- DI-02575
Press Enter · cited answer in seconds