Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the maxilla (HP:0000326)

Parent Node:
Abnormality of the premaxilla (HP:0010758)

..Starting node
..Aplasia/Hypoplasia of the premaxilla (HP:0010756)

Term ID:

10756

Name:

Aplasia/Hypoplasia of the premaxilla

Synonym:

Aplasia/hypoplasia of the intermaxillary bone; Aplasia/hypoplasia of the primary palate bone

Definition:

Absence or underdevelopment of the premaxilla.

Comments:

Reference:

HP:0010756

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the premaxilla (HP:0010650)

........

Aplasia of the premaxilla (HP:0010757)

Sister Nodes:

Hyperplasia of the premaxilla (HP:0430029)

Prominence of the premaxilla (HP:0010759)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010756	HP:0010756	Aplasia/Hypoplasia of the premaxilla	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010756	HP:0010756	Aplasia/Hypoplasia of the premaxilla	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0010756	HP:0010756	Aplasia/Hypoplasia of the premaxilla	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0010756	HP:0010756	Aplasia/Hypoplasia of the premaxilla	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0010756	HP:0010650	Hypoplasia of the premaxilla	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010756	HP:0010650	Hypoplasia of the premaxilla	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0010756	HP:0010757	Aplasia of the premaxilla	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0010756	HP:0010650	Hypoplasia of the premaxilla	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15

Genes (4) :GLI2 PTCH1 SIX3 SMOC1

Diseases (4) :OMIM:610829 OMIM:610828 OMIM:157170 ORPHA:1106

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