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:
Neuroendocrine neoplasm (HP:0100634)

Parent Node:
Carcinoid tumor (HP:0100570)

..Starting node
..Pulmonary carcinoid tumor (HP:0030445)

Term ID:

30445

Name:

Pulmonary carcinoid tumor

Synonym:

Lung carcinoid tumor; Lung carcinoid tumour; Pulmonary carcinoid tumour

Definition:

A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.

Comments:

Reference:

HP:0030445

Genes and Diseases:

Child Nodes:

........

Atypical pulmonary carcinoid tumor (HP:0030446)

Sister Nodes:

Intestinal carcinoid (HP:0006723)

Small intestine carcinoid (HP:0006722)

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:0030445	HP:0030445	Pulmonary carcinoid tumor	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0030445	HP:0030445	Pulmonary carcinoid tumor	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0030445	HP:0030446	Atypical pulmonary carcinoid tumor	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0030445	HP:0030446	Atypical pulmonary carcinoid tumor	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0030445	HP:0030446	Atypical pulmonary carcinoid tumor	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040284 - Very rare	129

Genes (9) :ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX LMNA MEN1 SDHD

Diseases (5) :ORPHA:100075 ORPHA:652 ORPHA:276152 ORPHA:363618 ORPHA:100093

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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