Human Phenotype Ontology 
Grandparent Node:
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Abnormal hard palate morphology (HP:0100737)help
Grandparent Node:
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Oral cleft (HP:0000202)help
Parent Node:
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Cleft palate (HP:0000175)help
..Starting node
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Median cleft palate (HP:0009099)help
Term ID: 9099
Name: Median cleft palate
Synonym: Central cleft palate; Midline cleft palate
Definition: Cleft palate of the midline of the palate.
Comments:
Reference: HP:0009099
Genes and Diseases:
 
       Child Nodes:
........expandMedian cleft lip and palate (HP:0008501) help

 Sister Nodes: 
..expandCleft maxillary alveolus (HP:0410003) help
..expandNon-midline cleft palate (HP:0100338) help
..expandobsolete Cleft secondary palate (HP:0410004) help
..expandSubmucous cleft of soft and hard palate (HP:0410031) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009099HP:0009099Median cleft palate0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0009099HP:0009099Median cleft palate0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0009099HP:0009099Median cleft palate0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0009099HP:0009099Median cleft palate0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0009099HP:0009099Median cleft palate0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0009099HP:0009099Median cleft palate0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0009099HP:0009099Median cleft palate0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0009099HP:0009099Median cleft palate0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0009099HP:0009099Median cleft palate0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0009099HP:0009099Median cleft palate0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0009099HP:0009099Median cleft palate0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0009099HP:0009099Median cleft palate0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0009099HP:0009099Median cleft palate0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0009099HP:0009099Median cleft palate0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0009099HP:0009099Median cleft palate0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0009099HP:0009099Median cleft palate0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0009099HP:0009099Median cleft palate0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0009099HP:0009099Median cleft palate0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0009099HP:0009099Median cleft palate0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0009099HP:0009099Median cleft palate0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndrome178
HP:0009099HP:0009099Median cleft palate0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0009099HP:0009099Median cleft palate0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 432
HP:0009099HP:0009099Median cleft palate0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0009099HP:0009099Median cleft palate0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040281 - Very frequent5
HP:0009099HP:0008501Median cleft lip and palate1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0009099HP:0008501Median cleft lip and palate1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0009099HP:0008501Median cleft lip and palate1FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040281 - Very frequent35
HP:0009099HP:0008501Median cleft lip and palate1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0009099HP:0008501Median cleft lip and palate1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0009099HP:0008501Median cleft lip and palate1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0009099HP:0008501Median cleft lip and palate1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0009099HP:0008501Median cleft lip and palate1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0009099HP:0008501Median cleft lip and palate1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0009099HP:0008501Median cleft lip and palate1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0009099HP:0008501Median cleft lip and palate1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0009099HP:0008501Median cleft lip and palate1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0009099HP:0008501Median cleft lip and palate1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0009099HP:0008501Median cleft lip and palate1SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040282 - Frequent178
HP:0009099HP:0008501Median cleft lip and palate1TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0009099HP:0008501Median cleft lip and palate1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98


Genes (24) :ALX3 CILK1 DVL1 DVL3 EPG5 FAM20C FOXA2 FZD2 GLI2 HESX1 LBR LHX4 NUAK2 OTX2 PITX1 POU1F1 PROP1 PTCH1 SIX3 SLC2A10 STAG2 TGIF1 WNT5A ZSWIM6

Diseases (15) :OMIM:136760 OMIM:612651 ORPHA:3107 OMIM:242840 ORPHA:1832 ORPHA:95494 OMIM:169400 OMIM:619452 OMIM:119800 OMIM:610828 OMIM:157170 ORPHA:3342 OMIM:301043 OMIM:142946 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.