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 dentition (HP:0000164)

Parent Node:
Abnormal molar morphology (HP:0011070)

Parent Node:
Abnormality of primary teeth (HP:0006481)

..Starting node
..Abnormality of primary molar morphology (HP:0006344)

Term ID:

6344

Name:

Abnormality of primary molar morphology

Synonym:

Abnormality of deciduous molar morphology; Abnormality of shape of baby molar; Abnormality of shape of primary molar

Definition:

An abnormality of morphology of primary molar.

Comments:

Reference:

HP:0006344

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed eruption of primary teeth (HP:0000680)

Hypoplasia of the primary teeth (HP:0006334)

Microdontia of primary teeth (HP:0006347)

Persistence of primary teeth (HP:0006335)

Premature loss of primary teeth (HP:0006323)

Widely spaced primary teeth (HP:0006313)

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:0006344	HP:0006344	Abnormality of primary molar morphology	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0006344	HP:0006344	Abnormality of primary molar morphology	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4

Genes (14) :ADAMTS2 AXIN2 EDA EDARADD FGFR1 IRF6 LRP6 MSX1 PAX9 SMARCAL1 SUMO1 TGFA WNT10A WNT10B

Diseases (3) :OMIM:225410 ORPHA:99798 ORPHA:1830

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

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