ORPHA:101023

Cleft hard palate

This disease is described under Cleft palate

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cleft hard palate
fr	Fente du palais dur
de	Spaltbildung des harten Gaumens
es	Fisura del paladar duro
it	Schisi del palato duro
nl	Schisis van palatum durum	Gespleten hard verhemelte
pt	Fenda do palato duro
pl	Rozszczep podniebienia twardego
cs	Rozštěp tvrdého patra
uk	Розщілина твердого піднебіння
zh	硬腭裂
tr	Yarık sert damak

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q35.1	E	specific	validated
ICD-11	LA42.0	E	specific	validated
MONDO	0015092	E		validated
UMLS	C0432090	E		validated
GARD	19774	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:2014Cleft palate
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
UBB	Candidate gene tested in	Not yet assessed	HGNC:12463	ENSG00000170315	191339	17p11.2	ubiquitin B	17468296[PMID]
GRHL3	Major susceptibility factor in	Assessed	HGNC:25839	ENSG00000158055	608317	1p36.11	grainyhead like transcription factor 3	27018472[PMID]_27018475[PMID]

0 records

No prevalence record in this release.

5 annotations · validated 2024-07-09

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0000163	Abnormal oral cavity morphology
HP:0008872	Feeding difficulties in infancy
HP:0002463	Language impairment
HP:0002870	Obstructive sleep apnea
Occasional (29-5%)
HP:0000405	Conductive hearing impairment

Annotation source: 33085275[PMID]