TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal urine sodium concentration (HP:0012603)
Associated genes and diseases:
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
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: 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: TXNRD2
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: CLCNKA
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: AVPR2
disease_id: OMIM:300539
disease_name: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
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: CYP11B2
disease_id: ORPHA:556030
disease_name: Early-onset familial hypoaldosteronism
Early-onset familial hyperreninemic hypoaldosteronism
Severe aldosterone synthase deficiency
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: GATM
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: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
Phenotype: Renal sodium wasting (HP:0012606)
Associated genes and diseases:
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick 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: CYP11B2
disease_id: ORPHA:556030
disease_name: Early-onset familial hypoaldosteronism
Early-onset familial hyperreninemic hypoaldosteronism
Severe aldosterone synthase deficiency
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: GATM
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: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
Phenotype: Abnormal urine magnesium concentration (HP:0012607)
Associated genes and diseases:
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
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: ATP1A1
disease_id: OMIM:618314
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
gene_symbol: ATP1A1
disease_id: ORPHA:564178
disease_name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: FXYD2
disease_id: OMIM:154020
disease_name: HYPOMAGNESEMIA 2, RENAL
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: GNA11
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: CASR
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: RRAGD
disease_id: ORPHA:73224
disease_name: Kidney tubulopathy-dilated cardiomyopathy syndrome
Phenotype: Hypermagnesiuria (HP:0012608)
Associated genes and diseases:
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: GNA11
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: CASR
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: RRAGD
disease_id: ORPHA:73224
disease_name: Kidney tubulopathy-dilated cardiomyopathy syndrome
Phenotype: Skeletal muscle autophagosome accumulation (HP:0025717)
Associated genes and diseases:
gene_symbol: GGPS1
disease_id: OMIM:619518
disease_name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
Phenotype: Disseminated nontuberculous mycobacterial infection (HP:0032283)
Associated genes and diseases:
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: IL12RB1
disease_id: ORPHA:319552
disease_name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
gene_symbol: IKBKG
disease_id: OMIM:300636
disease_name: IMMUNODEFICIENCY 33
Phenotype: Ultra-low vision with retained motion projection (HP:0032284)
Associated genes and diseases:
gene_symbol: GDF6
disease_id: OMIM:615360
disease_name: LEBER CONGENITAL AMAUROSIS 17
Phenotype: Ultra-low vision with retained light projection (HP:0032285)
Associated genes and diseases:
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
Phenotype: Ultra-low vision with retained light perception (HP:0032286)
Associated genes and diseases:
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
Phenotype: Ultra-low vision with no light perception (HP:0032287)
Associated genes and diseases:
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated genes and diseases:
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
Phenotype: Abnormal fetal skin morphology (HP:0025723)
Associated genes and diseases:
gene_symbol: TGM1
disease_id: OMIM:242300
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
gene_symbol: FLG
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
gene_symbol: STS
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: LIG4
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: SLC27A4
disease_id: ORPHA:88621
disease_name: Ichthyosis-prematurity syndrome
Congenital ichthyosis type 4
IPS
gene_symbol: MRPS22
disease_id: OMIM:611719
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
gene_symbol: ALG9
disease_id: OMIM:608776
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
Phenotype: Caseous vernix-like desquamation (HP:0025724)
Associated genes and diseases:
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
Phenotype: Abnormality of urinary uric acid level (HP:0012610)
Associated genes and diseases:
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: HPRT1
disease_id: OMIM:300323
disease_name: HYPERURICEMIA, HPRT-RELATED
gene_symbol: HPRT1
disease_id: ORPHA:79233
disease_name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Kelley-Seegmiller syndrome
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: PRPS1
disease_id: ORPHA:411543
disease_name: Severe phosphoribosylpyrophosphate synthetase superactivity
Severe PRPP synthetase superactivity
Severe PRPS1 superactivity
gene_symbol: PRPS1
disease_id: ORPHA:411536
disease_name: Mild phosphoribosylpyrophosphate synthetase superactivity
Mild PRPP synthetase superactivity
Mild PRPS1 superactivity
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
gene_symbol: SLC22A12
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SLC2A9
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: GATM
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: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
Phenotype: Hyperuricosuria (HP:0003149)
Associated genes and diseases:
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: HPRT1
disease_id: OMIM:300323
disease_name: HYPERURICEMIA, HPRT-RELATED
gene_symbol: HPRT1
disease_id: ORPHA:79233
disease_name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
HPRT deficiency, grade I
HPRT partial deficiency
HPRT-related gout
HPRT-related hyperuricemia
HPRT1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
Kelley-Seegmiller syndrome
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: PRPS1
disease_id: ORPHA:411543
disease_name: Severe phosphoribosylpyrophosphate synthetase superactivity
Severe PRPP synthetase superactivity
Severe PRPS1 superactivity
gene_symbol: PRPS1
disease_id: ORPHA:411536
disease_name: Mild phosphoribosylpyrophosphate synthetase superactivity
Mild PRPP synthetase superactivity
Mild PRPS1 superactivity
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
gene_symbol: SLC22A12
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SLC2A9
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: GATM
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
Phenotype: Abnormal urinary sulfate concentration (HP:0012612)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: SLC26A1
disease_id: OMIM:620372
disease_name: HYPERSULFATURIA
Phenotype: Increased urinary sulfate (HP:0012613)
Associated genes and diseases:
gene_symbol: SLC26A1
disease_id: OMIM:620372
disease_name: HYPERSULFATURIA
Phenotype: Urachal cyst (HP:0012618)
Associated genes and diseases:
gene_symbol: RAC2
disease_id: OMIM:608203
disease_name: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
Phenotype: Multiple bladder diverticula (HP:0012619)
Associated genes and diseases:
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: LTBP1
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: EFEMP2
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: FBLN5
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
Phenotype: Increased circulating IgG subclass (HP:0032296)
Associated genes and diseases:
gene_symbol: STIM1
disease_id: OMIM:612783
disease_name: IMMUNODEFICIENCY 10
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
Phenotype: Increased circulating IgG3 level (HP:0032297)
Associated genes and diseases:
gene_symbol: STIM1
disease_id: OMIM:612783
disease_name: IMMUNODEFICIENCY 10
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
Phenotype: Increased circulating IgG2 level (HP:0032299)
Associated genes and diseases:
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
Phenotype: Elevated urinary 5-hydroxyhexanoic acid level (HP:0025734)
Associated genes and diseases:
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
Phenotype: Cloacal abnormality (HP:0012620)
Associated genes and diseases:
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
Phenotype: Persistent cloaca (HP:0012621)
Associated genes and diseases:
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
Phenotype: Stage 1 chronic kidney disease (HP:0012623)
Associated genes and diseases:
gene_symbol: PKDCC
disease_id: OMIM:618821
disease_name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
Phenotype: Stage 2 chronic kidney disease (HP:0012624)
Associated genes and diseases:
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: CHRNA3
disease_id: OMIM:191800
disease_name: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT
Phenotype: Stage 3 chronic kidney disease (HP:0012625)
Associated genes and diseases:
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: NUP160
disease_id: OMIM:618178
disease_name: NEPHROTIC SYNDROME, TYPE 19
gene_symbol: SLC4A2
disease_id: OMIM:620366
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
Phenotype: Stage 4 chronic kidney disease (HP:0012626)
Associated genes and diseases:
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: PRPS1
disease_id: ORPHA:411536
disease_name: Mild phosphoribosylpyrophosphate synthetase superactivity
Mild PRPP synthetase superactivity
Mild PRPS1 superactivity
Phenotype: Pseudoexfoliation (HP:0012627)
Associated genes and diseases:
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
Phenotype: Abnormal suspensory ligament of lens morphology (HP:0012628)
Associated genes and diseases:
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
Phenotype: Phakodonesis (HP:0012629)
Associated genes and diseases:
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
gene_symbol: ADAMTS17
disease_id: OMIM:613195
disease_name: WEILL-MARCHESANI SYNDROME 4
Phenotype: Long-bone fracture (HP:0025736)
Associated genes and diseases:
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: SQSTM1
disease_id: OMIM:167250
disease_name: PAGET DISEASE OF BONE 3
gene_symbol: TNFRSF11A
disease_id: OMIM:602080
disease_name: PAGET DISEASE OF BONE 2, EARLY-ONSET
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
gene_symbol: CLCN7
disease_id: OMIM:166600
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: XYLT2
disease_id: OMIM:605822
disease_name: SPONDYLOOCULAR SYNDROME
gene_symbol: BICD2
disease_id: OMIM:618291
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
Phenotype: Elevated urine L-xylulose level (HP:0025742)
Associated genes and diseases:
gene_symbol: DCXR
disease_id: OMIM:260800
disease_name: PENTOSURIA
Phenotype: Abnormal trabecular meshwork morphology (HP:0012630)
Associated genes and diseases:
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME