Phenotype: Abnormal blood monovalent inorganic cation concentration (HP:0010930)
Associated genes and diseases:
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: RYR1
disease_id: ORPHA:466650
disease_name: Exercise-induced malignant hyperthermia
Exertional heat stroke
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: RYR1
disease_id: OMIM:145600
disease_name: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
gene_symbol: ABCB6
disease_id: ORPHA:90044
disease_name: Familial pseudohyperkalemia
gene_symbol: ABCB6
disease_id: OMIM:609153
disease_name: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: LPIN1
disease_id: OMIM:268200
disease_name: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
gene_symbol: LPIN1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: OBSCN
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO3
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: POLG2
disease_id: OMIM:618528
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)
gene_symbol: SLC4A2
disease_id: OMIM:620366
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9
gene_symbol: ALDOA
disease_id: ORPHA:57
disease_name: Glycogen storage disease due to aldolase A deficiency
GSD due to aldolase A deficiency
GSD type 12
GSD type XII
Glycogen storage disease type 12
Glycogen storage disease type XII
Glycogenosis due to aldolase A deficiency
Glycogenosis type 12
Glycogenosis type XII
gene_symbol: WNK4
disease_id: OMIM:614491
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIB
gene_symbol: WNK1
disease_id: OMIM:614492
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIC
gene_symbol: KLHL3
disease_id: OMIM:614495
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IID
gene_symbol: CUL3
disease_id: OMIM:614496
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIE
gene_symbol: INVS
disease_id: OMIM:602088
disease_name: NEPHRONOPHTHISIS 2
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: CACNA1D
disease_id: OMIM:615474
disease_name: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: HSD11B2
disease_id: OMIM:218030
disease_name: APPARENT MINERALOCORTICOID EXCESS
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: NR3C1
disease_id: ORPHA:786
disease_name: Generalized glucocorticoid resistance syndrome
gene_symbol: KCNJ10
disease_id: ORPHA:199343
disease_name: EAST syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: GATM
disease_id: OMIM:134600
disease_name: FANCONI RENOTUBULAR SYNDROME 1
gene_symbol: GATM
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: CYP11B1
disease_id: OMIM:202010
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: CYP11B1
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
gene_symbol: ATP1A1
disease_id: OMIM:618314
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
gene_symbol: SERPINA6
disease_id: OMIM:611489
disease_name: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: NDUFAF6
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: SLC34A1
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: CALM1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNJ5
disease_id: OMIM:613677
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE III
gene_symbol: KCNJ5
disease_id: ORPHA:251274
disease_name: Familial hyperaldosteronism type III
FH-III
FH3
Familial hyperaldosteronism type 3
gene_symbol: CALM2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TBX5
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN10A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNH2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNE2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: AKAP9
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: NOS1AP
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CACNA1C
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: KCNQ1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: TRDN
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN5A
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SCN4B
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CALM3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SNTA1
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: CAV3
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: ANK2
disease_id: ORPHA:101016
disease_name: Romano-Ward syndrome
Romano-Ward long QT syndrome
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: FXYD2
disease_id: OMIM:154020
disease_name: HYPOMAGNESEMIA 2, RENAL
gene_symbol: CLDN10
disease_id: OMIM:617671
disease_name: HELIX SYNDROME
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: PMS2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH6
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: NTHL1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MCM9
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: POLD1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: AXIN2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CDH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MBD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: STK11
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: POLE
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: GREM1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: EPCAM
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: BMPR1A
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MSH2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CTNNA1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: APC
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PTEN
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: SMAD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: RNF43
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MUTYH
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: CLCN2
disease_id: ORPHA:404
disease_name: Familial hyperaldosteronism type II
FH-II
FH2
Familial hyperaldosteronism type 2
gene_symbol: CLCN2
disease_id: OMIM:605635
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE II
gene_symbol: ZNRF3
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TP53
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CASR
disease_id: OMIM:601198
disease_name: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: AIP
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: USP8
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: BSND
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKA
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKA
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: PAX2
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: PBX1
disease_id: ORPHA:97362
disease_name: Renal hypoplasia, bilateral
gene_symbol: NFKB2
disease_id: ORPHA:293978
disease_name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: ELP1
disease_id: ORPHA:1764
disease_name: Familial dysautonomia
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
gene_symbol: NUP214
disease_id: OMIM:618426
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: NR0B1
disease_id: OMIM:300200
disease_name: ADRENAL HYPOPLASIA, CONGENITAL
gene_symbol: NR0B1
disease_id: ORPHA:95702
disease_name: X-linked adrenal hypoplasia congenita
X-linked AHC
X-linked congenital adrenal hypoplasia
gene_symbol: SCNN1G
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1G
disease_id: OMIM:620126
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE
gene_symbol: SCNN1A
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1A
disease_id: OMIM:264350
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
gene_symbol: SCNN1B
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1B
disease_id: OMIM:620125
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE
gene_symbol: AP1S3
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: IL36RN
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: NR3C2
disease_id: OMIM:177735
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: HSD3B2
disease_id: OMIM:201810
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: CA12
disease_id: OMIM:143860
disease_name: HYPERCHLORHIDROSIS, ISOLATED
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: MAGED2
disease_id: OMIM:300971
disease_name: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
gene_symbol: TBX19
disease_id: ORPHA:199296
disease_name: Congenital isolated ACTH deficiency
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: AVPR2
disease_id: OMIM:300539
disease_name: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: CYP11B2
disease_id: OMIM:203400
disease_name: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
gene_symbol: CYP11B2
disease_id: OMIM:610600
disease_name: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
gene_symbol: CYP11B2
disease_id: ORPHA:556030
disease_name: Early-onset familial hypoaldosteronism
Early-onset familial hyperreninemic hypoaldosteronism
Severe aldosterone synthase deficiency
gene_symbol: TDP2
disease_id: OMIM:616949
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
gene_symbol: EIF2AK3
disease_id: ORPHA:1667
disease_name: Wolcott-Rallison syndrome
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: MRAP
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: STAR
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: MC2R
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NNT
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NNT
disease_id: OMIM:614736
disease_name: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY
gene_symbol: TXNRD2
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NDUFB8
disease_id: OMIM:618252
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
gene_symbol: PPOX
disease_id: ORPHA:79473
disease_name: Variegate porphyria
Porphyria variegata
Protoporphyrinogen oxidase deficiency
gene_symbol: SARS2
disease_id: OMIM:613845
disease_name: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
gene_symbol: HMBS
disease_id: ORPHA:79276
disease_name: Acute intermittent porphyria
gene_symbol: TRAF3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: UNC93B1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TICAM1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TLR3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TBK1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: AQP2
disease_id: ORPHA:223
disease_name: Arginine vasopressin resistance
Nephrogenic diabetes insipidus
gene_symbol: AQP2
disease_id: OMIM:125800
disease_name: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
gene_symbol: FGFR1
disease_id: OMIM:615465
disease_name: HARTSFIELD SYNDROME
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: ARNT2
disease_id: OMIM:615926
disease_name: WEBB-DATTANI SYNDROME
gene_symbol: SLC5A1
disease_id: ORPHA:35710
disease_name: Glucose-galactose malabsorption
SGLT1 deficiency
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease