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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of fluid regulation (HP:0011032)

..Starting node
..Dehydration (HP:0001944)

Term ID:

1944

Name:

Dehydration

Synonym:

Dehydration; Exsiccosis

Definition:

Comments:

Reference:

HP:0001944

Genes and Diseases:

Child Nodes:

........

Hypertonic dehydration (HP:0001986)

................... HP:0004906 Hypernatremic dehydration

Sister Nodes:

Edema (HP:0000969)

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:0001944	HP:0001944	Dehydration	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional	130
HP:0001944	HP:0001944	Dehydration	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	130
HP:0001944	HP:0001944	Dehydration	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0001944	HP:0001944	Dehydration	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0001944	HP:0001944	Dehydration	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0001944	HP:0001944	Dehydration	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	58
HP:0001944	HP:0001944	Dehydration	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.	91
HP:0001944	HP:0001944	Dehydration	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0001944	HP:0001944	Dehydration	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0001944	HP:0001944	Dehydration	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.	68
HP:0001944	HP:0001944	Dehydration	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0001944	HP:0001944	Dehydration	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040283 - Occasional	19
HP:0001944	HP:0001944	Dehydration	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	75
HP:0001944	HP:0001944	Dehydration	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	63
HP:0001944	HP:0001944	Dehydration	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0001944	HP:0001944	Dehydration	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0001944	HP:0001944	Dehydration	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	1
HP:0001944	HP:0001944	Dehydration	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0001944	HP:0001944	Dehydration	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0001944	HP:0001944	Dehydration	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0001944	HP:0001944	Dehydration	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0001944	HP:0001944	Dehydration	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0001944	HP:0001944	Dehydration	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	4
HP:0001944	HP:0001944	Dehydration	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	53
HP:0001944	HP:0001944	Dehydration	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0001944	HP:0001944	Dehydration	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0001944	HP:0001944	Dehydration	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	9
HP:0001944	HP:0001944	Dehydration	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	6
HP:0001944	HP:0001944	Dehydration	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0001944	HP:0001944	Dehydration	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0001944	HP:0001944	Dehydration	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0001944	HP:0001944	Dehydration	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0001944	HP:0001944	Dehydration	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	HP:0040283 - Occasional	1371
HP:0001944	HP:0001944	Dehydration	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	9
HP:0001944	HP:0001944	Dehydration	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0001944	HP:0001944	Dehydration	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional	27
HP:0001944	HP:0001944	Dehydration	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0001944	HP:0001944	Dehydration	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001944	HP:0001944	Dehydration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0001944	HP:0001944	Dehydration	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0001944	HP:0001944	Dehydration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare	178
HP:0001944	HP:0001944	Dehydration	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0001944	HP:0001944	Dehydration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0001944	HP:0001944	Dehydration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0001944	HP:0001944	Dehydration	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0001944	HP:0001944	Dehydration	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0001944	HP:0001944	Dehydration	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	.	73
HP:0001944	HP:0001944	Dehydration	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0001944	HP:0001944	Dehydration	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	54
HP:0001944	HP:0001944	Dehydration	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0001944	HP:0001944	Dehydration	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0001944	HP:0001944	Dehydration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional	2
HP:0001944	HP:0001944	Dehydration	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0001944	HP:0001944	Dehydration	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent	170
HP:0001944	HP:0001944	Dehydration	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0001944	HP:0001944	Dehydration	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	HP:0040283 - Occasional	6
HP:0001944	HP:0001944	Dehydration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional	86
HP:0001944	HP:0001944	Dehydration	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0001944	HP:0001944	Dehydration	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0001944	HP:0001944	Dehydration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0001944	HP:0001944	Dehydration	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0001944	HP:0001944	Dehydration	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001944	HP:0001944	Dehydration	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001944	HP:0001944	Dehydration	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	7
HP:0001944	HP:0001944	Dehydration	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0001944	HP:0001944	Dehydration	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0001944	HP:0001944	Dehydration	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.	105
HP:0001944	HP:0001944	Dehydration	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0001944	HP:0001944	Dehydration	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0001944	HP:0001944	Dehydration	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0001944	HP:0001944	Dehydration	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0001944	HP:0001944	Dehydration	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0001944	HP:0001944	Dehydration	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0001944	HP:0001944	Dehydration	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0001944	HP:0001944	Dehydration	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	72
HP:0001944	HP:0001944	Dehydration	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	1
HP:0001944	HP:0001944	Dehydration	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	3
HP:0001944	HP:0001944	Dehydration	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.	19
HP:0001944	HP:0001944	Dehydration	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0001944	HP:0001944	Dehydration	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0001944	HP:0001944	Dehydration	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0001944	HP:0001944	Dehydration	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001944	HP:0001944	Dehydration	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001944	HP:0001944	Dehydration	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0001944	HP:0001944	Dehydration	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001944	HP:0001944	Dehydration	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.	192
HP:0001944	HP:0001944	Dehydration	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	192
HP:0001944	HP:0001944	Dehydration	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0001944	HP:0001944	Dehydration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional	39
HP:0001944	HP:0001944	Dehydration	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0001944	HP:0001944	Dehydration	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent	5
HP:0001944	HP:0001944	Dehydration	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	60
HP:0001944	HP:0001944	Dehydration	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional	217
HP:0001944	HP:0001944	Dehydration	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0001944	HP:0001944	Dehydration	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0001944	HP:0001944	Dehydration	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0001944	HP:0001944	Dehydration	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0001944	HP:0001944	Dehydration	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92
HP:0001944	HP:0001944	Dehydration	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0001944	HP:0001944	Dehydration	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0001944	HP:0001944	Dehydration	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	43
HP:0001944	HP:0001944	Dehydration	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0001944	HP:0001944	Dehydration	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001944	HP:0001944	Dehydration	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001944	HP:0001944	Dehydration	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	67
HP:0001944	HP:0001944	Dehydration	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0001944	HP:0001944	Dehydration	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	61
HP:0001944	HP:0001944	Dehydration	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent	57
HP:0001944	HP:0001944	Dehydration	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	2
HP:0001944	HP:0001944	Dehydration	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0001944	HP:0001944	Dehydration	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0001944	HP:0001944	Dehydration	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0001944	HP:0001944	Dehydration	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0001944	HP:0001944	Dehydration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional	47
HP:0001944	HP:0001944	Dehydration	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040281 - Very frequent	74
HP:0001944	HP:0001944	Dehydration	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption		74
HP:0001944	HP:0001944	Dehydration	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040283 - Occasional	41
HP:0001944	HP:0001944	Dehydration	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001944	HP:0001944	Dehydration	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040283 - Occasional	100
HP:0001944	HP:0001944	Dehydration	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0001944	HP:0001944	Dehydration	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	1
HP:0001944	HP:0001944	Dehydration	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	4
HP:0001944	HP:0001944	Dehydration	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional	2
HP:0001944	HP:0001944	Dehydration	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	HP:0040283 - Occasional	13
HP:0001944	HP:0001944	Dehydration	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional	98
HP:0001944	HP:0001944	Dehydration	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001944	HP:0001944	Dehydration	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001944	HP:0001944	Dehydration	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0001944	HP:0001944	Dehydration	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0001944	HP:0001986	Hypertonic dehydration	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0001944	HP:0001986	Hypertonic dehydration	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0001944	HP:0001986	Hypertonic dehydration	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0001944	HP:0001986	Hypertonic dehydration	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0001944	HP:0001986	Hypertonic dehydration	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0001944	HP:0001986	Hypertonic dehydration	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0001944	HP:0001986	Hypertonic dehydration	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome		100
HP:0001944	HP:0004906	Hypernatremic dehydration	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	75
HP:0001944	HP:0004906	Hypernatremic dehydration	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent	67
HP:0001944	HP:0004906	Hypernatremic dehydration	2	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0001944	HP:0004906	Hypernatremic dehydration	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100

Genes (104) :ABCA12 ABCC8 ACAD8 ACAT1 ACSF3 AGXT AK2 ALOX12B ALOXE3 AQP2 ASPRV1 ATP1A2 ATP1A3 ATP6V0A4 AVPR2 BLNK BSND CA12 CACNA1A CD79A CD79B CDKN1A CDKN1B CDKN2B CDKN2C CFTR CLCNKA CLCNKB CLMP CLPB CTNS CYC1 CYP11A1 CYP11B2 CYP24A1 CYP4F22 DBH EGFR EHHADH EIF2AK3 EPCAM ERCC6 FCGR2A GATM GCK HMGCL HSD3B2 HYMAI IGHM IGLL1 INS IVD KCNJ1 KCNJ11 LAMA3 LAMB3 LAMC2 LCT LIPN LRRC8A MCEE MEN1 MMAA MMAB MMACHC MMUT MRPS28 MYO5B NARS2 NDUFAF6 NEUROG3 NIPAL4 NLRP3 NR0B1 NR3C2 OCRL PCCA PCCB PDX1 PERCC1 PIK3R1 PKHD1 PLAGL1 SCNN1A SCNN1B SCNN1G SDR9C7 SLC12A1 SLC1A3 SLC22A5 SLC26A3 SLC34A1 SLC5A1 SLC5A2 SPINK5 STAT3 STX3 SULT2B1 TCF3 TGFB1 TGM1 UNC45A VPS33B ZFP57

Diseases (78) :ORPHA:457 ORPHA:313 ORPHA:79134 ORPHA:99885 ORPHA:99886 ORPHA:79159 OMIM:203750 ORPHA:134 ORPHA:289504 OMIM:614265 OMIM:259900 ORPHA:33355 OMIM:125800 ORPHA:223 ORPHA:2131 OMIM:602722 OMIM:304800 ORPHA:33110 ORPHA:89938 OMIM:143860 ORPHA:652 OMIM:219700 OMIM:607364 OMIM:615237 OMIM:616271 OMIM:219800 ORPHA:411629 ORPHA:411634 OMIM:615453 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 OMIM:143880 ORPHA:230 OMIM:616069 ORPHA:3337 ORPHA:1667 ORPHA:92050 OMIM:214150 ORPHA:20 ORPHA:90791 OMIM:601410 ORPHA:96191 OMIM:243500 OMIM:241200 ORPHA:79404 OMIM:223000 OMIM:251120 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:251000 ORPHA:79312 OMIM:618958 OMIM:251850 ORPHA:2290 OMIM:610370 ORPHA:83620 ORPHA:47045 OMIM:300200 OMIM:177735 ORPHA:534 OMIM:606054 OMIM:263200 ORPHA:171876 OMIM:264350 OMIM:601678 OMIM:212140 OMIM:214700 ORPHA:35710 OMIM:606824 ORPHA:69076 OMIM:256500 ORPHA:634 OMIM:619377 OMIM:208085

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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