TaoMedAI/RareMedData huggingface dataset:
Phenotype: Deep cerebral white matter hyperintensities (HP:0030892)
Associated genes and diseases:
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: ZFYVE26
disease_id: ORPHA:100996
disease_name: Autosomal recessive spastic paraplegia type 15
Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
Phenotype: Abnormal gastrointestinal transit time (HP:0030896)
Associated genes and diseases:
gene_symbol: CLMP
disease_id: OMIM:615237
disease_name: CONGENITAL SHORT BOWEL SYNDROME
gene_symbol: ANO1
disease_id: OMIM:620045
disease_name: INTESTINAL DYSMOTILITY SYNDROME
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
Phenotype: Decreased intestinal transit time (HP:0030897)
Associated genes and diseases:
gene_symbol: CLMP
disease_id: OMIM:615237
disease_name: CONGENITAL SHORT BOWEL SYNDROME
gene_symbol: ANO1
disease_id: OMIM:620045
disease_name: INTESTINAL DYSMOTILITY SYNDROME
Phenotype: Pruritis on hand (HP:0030899)
Associated genes and diseases:
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
gene_symbol: ATP8B1
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ABCB11
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ABCB4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: NR1H4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
Phenotype: Large forehead (HP:0002003)
Associated genes and diseases:
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: HS6ST2
disease_id: OMIM:301025
disease_name: PAGANINI-MIOZZO SYNDROME
gene_symbol: TMLHE
disease_id: OMIM:300872
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: FMR1
disease_id: ORPHA:908
disease_name: Fragile X syndrome
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: SPOP
disease_id: OMIM:618829
disease_name: NABAIS SA-DE VRIES SYNDROME, TYPE 2
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: FLNA
disease_id: OMIM:300321
disease_name: FG SYNDROME 2
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: STRADA
disease_id: OMIM:611087
disease_name: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: SRC
disease_id: OMIM:616937
disease_name: THROMBOCYTOPENIA 6
Phenotype: Tessier cleft (HP:0002006)
Associated genes and diseases:
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: COLEC10
disease_id: OMIM:248340
disease_name: 3MC SYNDROME 3
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
gene_symbol: ALX1
disease_id: OMIM:613456
disease_name: FRONTONASAL DYSPLASIA 3
gene_symbol: EVC
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: CTNNB1
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: EVC2
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: SPECC1L
disease_id: OMIM:600251
disease_name: FACIAL CLEFTING, OBLIQUE, 1
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
Phenotype: Potter facies (HP:0002009)
Associated genes and diseases:
gene_symbol: FGF20
disease_id: OMIM:615721
disease_name: RENAL HYPODYSPLASIA/APLASIA 2
gene_symbol: ACE
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: AGT
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: AGTR1
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: REN
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: UBA1
disease_id: ORPHA:1145
disease_name: Infantile-onset X-linked spinal muscular atrophy
SMAX2
Spinal muscular atrophy with arthrogryposis
X-linked distal arthrogryposis multiplex congenita
X-linked spinal muscular atrophy type 2
gene_symbol: GFRA1
disease_id: OMIM:619887
disease_name: RENAL HYPODYSPLASIA/APLASIA 4
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: ITGA8
disease_id: OMIM:191830
disease_name: RENAL HYPODYSPLASIA/APLASIA 1
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
Phenotype: Narrow maxilla (HP:0002010)
Associated genes and diseases:
gene_symbol: ABL1
disease_id: OMIM:617602
disease_name: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
Phenotype: Carotid artery tortuosity (HP:0005302)
Associated genes and diseases:
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Aortic arch calcification (HP:0005303)
Associated genes and diseases:
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
Phenotype: Hypoplastic pulmonary veins (HP:0005304)
Associated genes and diseases:
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: GDF1
disease_id: OMIM:613854
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6
gene_symbol: RSPO2
disease_id: OMIM:618021
disease_name: TETRAAMELIA SYNDROME 2
Phenotype: Cerebral venous thrombosis (HP:0005305)
Associated genes and diseases:
gene_symbol: PROS1
disease_id: OMIM:614514
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROS1
disease_id: OMIM:612336
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: PGM1
disease_id: OMIM:614921
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It
gene_symbol: SERPINC1
disease_id: OMIM:613118
disease_name: ANTITHROMBIN III DEFICIENCY
gene_symbol: SERPINC1
disease_id: ORPHA:82
disease_name: Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
gene_symbol: PROC
disease_id: OMIM:176860
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: F13A1
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: F2
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: HABP2
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: MTHFR
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
Phenotype: Postural hypotension with compensatory tachycardia (HP:0005307)
Associated genes and diseases:
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: SIM1
disease_id: ORPHA:369873
disease_name: Obesity due to SIM1 deficiency
Phenotype: Pulmonary artery vasoconstriction (HP:0005308)
Associated genes and diseases:
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
Phenotype: Protein avoidance (HP:0002038)
Associated genes and diseases:
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: OTC
disease_id: ORPHA:664
disease_name: Ornithine transcarbamylase deficiency
OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: CPS1
disease_id: OMIM:237300
disease_name: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: SLC25A15
disease_id: ORPHA:415
disease_name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Phenotype: Large vessel vasculitis (HP:0005310)
Associated genes and diseases:
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
Phenotype: Agenesis of pulmonary vessels (HP:0005311)
Associated genes and diseases:
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
Phenotype: Pulmonary aterial intimal fibrosis (HP:0005312)
Associated genes and diseases:
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
Phenotype: Arterial fibromuscular dysplasia (HP:0005313)
Associated genes and diseases:
gene_symbol: THSD1
disease_id: OMIM:618734
disease_name: ANEURYSM, INTRACRANIAL BERRY, 12
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
Phenotype: Peripheral pulmonary vessel aplasia (HP:0005316)
Associated genes and diseases:
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated genes and diseases:
gene_symbol: KCNK3
disease_id: OMIM:615344
disease_name: PULMONARY HYPERTENSION, PRIMARY, 4
gene_symbol: TLL1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: SMAD9
disease_id: OMIM:615342
disease_name: PULMONARY HYPERTENSION, PRIMARY, 2
gene_symbol: CAV1
disease_id: OMIM:615343
disease_name: PULMONARY HYPERTENSION, PRIMARY, 3
Phenotype: Cerebral vasculitis (HP:0005318)
Associated genes and diseases:
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: POLR3F
disease_id: OMIM:619872
disease_name: IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
Phenotype: Intractable diarrhea (HP:0002041)
Associated genes and diseases:
gene_symbol: SKIC3
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: EPCAM
disease_id: OMIM:613217
disease_name: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
gene_symbol: C5
disease_id: OMIM:609536
disease_name: COMPLEMENT COMPONENT 5 DEFICIENCY
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
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated genes and diseases:
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: MEN1
disease_id: ORPHA:97279
disease_name: Insulinoma
gene_symbol: MEN1
disease_id: OMIM:131100
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
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: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
gene_symbol: GCGR
disease_id: ORPHA:438274
disease_name: GCGR-related hyperglucagonemia
Mahvash disease
gene_symbol: YY1
disease_id: ORPHA:97279
disease_name: Insulinoma
Phenotype: Renal cortical atrophy (HP:0002048)
Associated genes and diseases:
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated genes and diseases:
gene_symbol: GATA3
disease_id: OMIM:146255
disease_name: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: UQCC2
disease_id: OMIM:615824
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: PC
disease_id: OMIM:266150
disease_name: PYRUVATE CARBOXYLASE DEFICIENCY
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
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: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
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: Lack of facial subcutaneous fat (HP:0005320)
Associated genes and diseases:
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: KCNJ6
disease_id: OMIM:614098
disease_name: KEPPEN-LUBINSKY SYNDROME
Phenotype: Mandibulofacial dysostosis (HP:0005321)
Associated genes and diseases:
gene_symbol: POLR1C
disease_id: OMIM:248390
disease_name: TREACHER COLLINS SYNDROME 3
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: EFTUD2
disease_id: OMIM:610536
disease_name: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
Phenotype: Prominent nasal septum (HP:0005322)
Associated genes and diseases:
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: ATP6V1B2
disease_id: OMIM:616455
disease_name: ZIMMERMANN-LABAND SYNDROME 2
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Phenotype: Hemifacial hypertrophy (HP:0005323)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: OMIM:606773
disease_name: HEMIFACIAL MYOHYPERPLASIA
Phenotype: Extension of hair growth on temples to lateral eyebrow (HP:0005325)
Associated genes and diseases:
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated genes and diseases:
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: MAP1B
disease_id: OMIM:618918
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 9
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
Phenotype: Loss of facial expression (HP:0005327)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: PRNP
disease_id: OMIM:123400
disease_name: CREUTZFELDT-JAKOB DISEASE
gene_symbol: HLA-DQB1
disease_id: OMIM:123400
disease_name: CREUTZFELDT-JAKOB DISEASE
Phenotype: Macroorchidism, postpubertal (HP:0002050)
Associated genes and diseases:
gene_symbol: CYP19A1
disease_id: ORPHA:91
disease_name: Aromatase deficiency
Congenital estrogen deficiency
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
Phenotype: Curved linear dimple below the lower lip (HP:0002055)
Associated genes and diseases:
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME