Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Acidosis (HP:0001941)

Parent Node:
Hyperchloremic acidosis (HP:0001995)

..Starting node
..Hyperchloremic metabolic acidosis (HP:0004918)

Term ID:

4918

Name:

Hyperchloremic metabolic acidosis

Synonym:

Non-gap acidosis

Definition:

A form of metabolic acidosis with increased serum chloride levels.

Comments:

Reference:

HP:0004918

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:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	2
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	86
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	39
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent	5
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent	47
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.	109
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0004918	HP:0004918	Hyperchloremic metabolic acidosis	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71

Genes (12) :CTNS CUL3 EHHADH GALT GATM KLHL3 NDUFAF6 NEUROG3 SLC34A1 SLC4A1 WNK1 WNK4

Diseases (11) :ORPHA:411629 OMIM:614496 ORPHA:3337 OMIM:230400 OMIM:614495 OMIM:618913 OMIM:610370 ORPHA:83620 OMIM:611590 OMIM:614492 OMIM:614491

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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