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:
Carcinoid tumor (HP:0100570)

Parent Node:
Pulmonary carcinoid tumor (HP:0030445)

..Starting node
..Atypical pulmonary carcinoid tumor (HP:0030446)

Term ID:

30446

Name:

Atypical pulmonary carcinoid tumor

Synonym:

Atypical pulmonary carcinoid tumour

Definition:

Comments:

Reference:

HP:0030446

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030446	HP:0030446	Atypical pulmonary carcinoid tumor	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0030446	HP:0030446	Atypical pulmonary carcinoid tumor	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0030446	HP:0030446	Atypical pulmonary carcinoid tumor	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040284 - Very rare	129

Genes (3) :ATRX DAXX SDHD

Diseases (2) :ORPHA:100075 ORPHA:100093

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