TaoMedAI/RareMedData huggingface dataset:
Phenotype: Vaginal dryness (HP:0031088)
Associated genes and diseases:
gene_symbol: TP63
disease_id: OMIM:106260
disease_name: ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
Phenotype: Abnormal response to glucagon stimulation test (HP:0031080)
Associated genes and diseases:
gene_symbol: KCNJ11
disease_id: ORPHA:79644
disease_name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: UCP2
disease_id: ORPHA:276556
disease_name: Hyperinsulinism due to UCP2 deficiency
Hyperinsulinemic hypoglycemia due to UCP2 deficiency
gene_symbol: HNF1A
disease_id: ORPHA:324575
disease_name: Hyperinsulinism due to HNF1A deficiency
Hyperinsulinemic hypoglycemia due to HNF1A deficiency
gene_symbol: ABCC8
disease_id: ORPHA:276575
disease_name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
Phenotype: Action myoclonus (HP:0034360)
Associated genes and diseases:
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: NOL3
disease_id: OMIM:614937
disease_name: MYOCLONUS, FAMILIAL, 1
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: LMNB2
disease_id: OMIM:616540
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 9
Phenotype: Redundant umbilical skin (HP:0034361)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:614557
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
Phenotype: Dull foveal reflex (HP:0034362)
Associated genes and diseases:
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
Phenotype: Caesarean section (HP:0011410)
Associated genes and diseases:
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: PTCD3
disease_id: OMIM:619057
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51
gene_symbol: AGTPBP1
disease_id: OMIM:618276
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
gene_symbol: OPA1
disease_id: OMIM:616896
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: MTM1
disease_id: OMIM:310400
disease_name: MYOPATHY, CENTRONUCLEAR, X-LINKED
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: MCM4
disease_id: OMIM:609981
disease_name: IMMUNODEFICIENCY 54
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
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: CYP11B2
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
Phenotype: Ventouse delivery (HP:0011412)
Associated genes and diseases:
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: SLC6A5
disease_id: OMIM:614618
disease_name: HYPEREKPLEXIA 3
gene_symbol: EEF1A2
disease_id: OMIM:616393
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
Phenotype: Hydropic placenta (HP:0011414)
Associated genes and diseases:
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
Phenotype: Placental abruption (HP:0011419)
Associated genes and diseases:
gene_symbol: FANCF
disease_id: OMIM:603467
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP F
gene_symbol: CFH
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: CFI
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: CD46
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: HELLPAR
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
Phenotype: Fibrofatty replacement of right ventricular myocardium (HP:0034364)
Associated genes and diseases:
gene_symbol: PKP2
disease_id: OMIM:609040
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
Phenotype: Corneal pterygium (HP:0034363)
Associated genes and diseases:
gene_symbol: LAMA3
disease_id: OMIM:245660
disease_name: LARYNGOONYCHOCUTANEOUS SYNDROME
Phenotype: Elevated circulating alpha-aminoadipic semialdehyde concentration (HP:0034365)
Associated genes and diseases:
gene_symbol: ALDH7A1
disease_id: OMIM:266100
disease_name: EPILEPSY, PYRIDOXINE-DEPENDENT
Phenotype: Urolithiasis (HP:0034368)
Associated genes and diseases:
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
gene_symbol: GSN
disease_id: OMIM:105120
disease_name: AMYLOIDOSIS, FINNISH TYPE
Phenotype: Decreased circulating beta-mannosidase activity (HP:0034367)
Associated genes and diseases:
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated genes and diseases:
gene_symbol: COQ9
disease_id: OMIM:614654
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 5
gene_symbol: PDSS2
disease_id: OMIM:614652
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 3
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
Phenotype: Spindle-shaped finger (HP:0031092)
Associated genes and diseases:
gene_symbol: KIF7
disease_id: ORPHA:166024
disease_name: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Phenotype: Abnormal breast physiology (HP:0031094)
Associated genes and diseases:
gene_symbol: PRLR
disease_id: OMIM:615555
disease_name: HYPERPROLACTINEMIA
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: MEN1
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: MEN1
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDH23
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: AIP
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: AIP
disease_id: ORPHA:99725
disease_name: Pituitary gigantism
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: OMIM:102200
disease_name: PITUITARY ADENOMA 1, MULTIPLE TYPES
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
Phenotype: Delayed vertebral ossification (HP:0031096)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: ORPHA:93296
disease_name: Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated genes and diseases:
gene_symbol: PROP1
disease_id: OMIM:262600
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 2
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: TSHR
disease_id: OMIM:609152
disease_name: HYPERTHYROIDISM, NONAUTOIMMUNE
gene_symbol: TSHR
disease_id: OMIM:603373
disease_name: HYPERTHYROIDISM, FAMILIAL GESTATIONAL
gene_symbol: THRB
disease_id: ORPHA:566243
disease_name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
gene_symbol: OTX2
disease_id: OMIM:613986
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
gene_symbol: CPE
disease_id: OMIM:619326
disease_name: BDV SYNDROME
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: ROBO1
disease_id: OMIM:620303
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8
gene_symbol: TSHB
disease_id: OMIM:275100
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: MANF
disease_id: OMIM:620651
disease_name: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME
Phenotype: Abnormal circulating inhibin level (HP:0031099)
Associated genes and diseases:
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: XRCC2
disease_id: OMIM:619146
disease_name: PREMATURE OVARIAN FAILURE 17
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Phenotype: Finger dactylitis (HP:0031090)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:232
disease_name: Sickle cell anemia
Phenotype: Reduced circulating prekallikrein concentration (HP:0034371)
Associated genes and diseases:
gene_symbol: KLKB1
disease_id: OMIM:612423
disease_name: PREKALLIKREIN DEFICIENCY
Phenotype: Internal tibial torsion (HP:0034372)
Associated genes and diseases:
gene_symbol: COL9A3
disease_id: OMIM:620022
disease_name: STICKLER SYNDROME, TYPE VI
gene_symbol: COL2A1
disease_id: OMIM:616583
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
Phenotype: Death in adolescence (HP:0011421)
Associated genes and diseases:
gene_symbol: DSP
disease_id: OMIM:605676
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
gene_symbol: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: IL6ST
disease_id: OMIM:619751
disease_name: STUVE-WIEDEMANN SYNDROME 2
gene_symbol: COX8A
disease_id: OMIM:619059
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: OAS1
disease_id: OMIM:618042
disease_name: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
gene_symbol: MFSD2A
disease_id: OMIM:616486
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: TPI1
disease_id: OMIM:615512
disease_name: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: MALT1
disease_id: OMIM:615468
disease_name: IMMUNODEFICIENCY 12
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: FHL1
disease_id: OMIM:300717
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: SLC25A22
disease_id: OMIM:609304
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3
gene_symbol: ERCC4
disease_id: OMIM:610965
disease_name: XFE PROGEROID SYNDROME
gene_symbol: SOST
disease_id: OMIM:122860
disease_name: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Phenotype: Abnormal blood chloride concentration (HP:0011422)
Associated genes and diseases:
gene_symbol: MAGED2
disease_id: OMIM:300971
disease_name: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
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: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
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
Phenotype: Hyperchloremia (HP:0011423)
Associated genes and diseases:
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
Phenotype: Increased serum zinc (HP:0011424)
Associated genes and diseases:
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: PSTPIP1
disease_id: OMIM:601979
disease_name: HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION
Phenotype: Enlarged fetal cisterna magna (HP:0011427)
Associated genes and diseases:
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Phenotype: Short fetal femur length (HP:0011428)
Associated genes and diseases:
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
Phenotype: Urethrovesical occlusion (HP:0034378)
Associated genes and diseases:
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: BNC2
disease_id: OMIM:618612
disease_name: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL
gene_symbol: BNC2
disease_id: ORPHA:93110
disease_name: Posterior urethral valve
PUV
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: CHRM3
disease_id: ORPHA:2970
disease_name: Prune belly syndrome
Abdominal muscle deficiency syndrome
Eagle-Barret syndrome
Obrinsky syndrome
Triad syndrome
gene_symbol: CHRM3
disease_id: OMIM:100100
disease_name: PRUNE BELLY SYNDROME
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: ITGB4
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: ITGA6
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: PLEC
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
Phenotype: External tibial torsion (HP:0034373)
Associated genes and diseases:
gene_symbol: TTI1
disease_id: OMIM:620445
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
Phenotype: Trident acetabulum (HP:0034374)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: DYNLT2B
disease_id: OMIM:617405
disease_name: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
Phenotype: Central nervous system axonal spheroid (HP:0034381)
Associated genes and diseases:
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
Phenotype: High maternal circulating chorionic gonadotropin concentration (HP:0011433)
Associated genes and diseases:
gene_symbol: IARS1
disease_id: OMIM:617093
disease_name: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY