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 digestive system physiology (HP:0025032)

Parent Node:
Abdominal symptom (HP:0011458)

..Starting node
..Protein avoidance (HP:0002038)

Term ID:

2038

Name:

Protein avoidance

Synonym:

Definition:

Comments:

Reference:

HP:0002038

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abdominal distention (HP:0003270)

Abdominal pain (HP:0002027)

Abnormal bowel sounds (HP:0030142)

Anorexia (HP:0002039)

Constipation (HP:0002019)

Diarrhea (HP:0002014)

Feeding difficulties (HP:0011968)

Malnutrition (HP:0004395)

Nausea and vomiting (HP:0002017)

Poor appetite (HP:0004396)

Scaphoid abdomen (HP:0025063)

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:0002038	HP:0002038	Protein avoidance	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0002038	HP:0002038	Protein avoidance	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.	119
HP:0002038	HP:0002038	Protein avoidance	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.	124
HP:0002038	HP:0002038	Protein avoidance	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.	369
HP:0002038	HP:0002038	Protein avoidance	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0002038	HP:0002038	Protein avoidance	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88

Genes (5) :ASL ASS1 CPS1 OTC SLC25A15

Diseases (6) :OMIM:207900 OMIM:215700 OMIM:237300 OMIM:311250 OMIM:238970 ORPHA:415

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