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:
Abnormal spleen morphology (HP:0025408)

Parent Node:
Aplasia/Hypoplasia of the spleen (HP:0010451)

..Starting node
..Hypoplastic spleen (HP:0006270)

Term ID:

6270

Name:

Hypoplastic spleen

Synonym:

Underdeveloped spleen

Definition:

Underdevelopment of the spleen.

Comments:

Reference:

HP:0006270

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asplenia (HP:0001746)

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:0006270	HP:0006270	Hypoplastic spleen	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0006270	HP:0006270	Hypoplastic spleen	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0006270	HP:0006270	Hypoplastic spleen	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0006270	HP:0006270	Hypoplastic spleen	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0006270	HP:0006270	Hypoplastic spleen	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0006270	HP:0006270	Hypoplastic spleen	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional	8
HP:0006270	HP:0006270	Hypoplastic spleen	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71

Genes (7) :FAM111A KATNB1 MCM10 NDE1 RELN SAMD9 STRA6

Diseases (5) :OMIM:602361 ORPHA:89844 OMIM:619313 OMIM:617053 OMIM:601186

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