TaoMedAI/RareMedData huggingface dataset:
Phenotype: Pulmonary bleb (HP:0032447)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: MFAP5
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: IPO8
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: THSD4
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: AEBP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FKBP14
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL3A1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SKI
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PLOD1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PMEPA1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LTBP3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ASPH
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EMILIN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LOX
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SLC2A10
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: BGN
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ABL1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
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
Phenotype: Achlorhydria (HP:0032448)
Associated genes and diseases:
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
Phenotype: Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)
Associated genes and diseases:
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMA3
disease_id: OMIM:619784
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: OMIM:619785
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: ITGB4
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: COL17A1
disease_id: ORPHA:79406
disease_name: Late-onset junctional epidermolysis bullosa
Epidermolysis bullosa progressiva
JEB-lo
Late-onset JEB
gene_symbol: ITGA6
disease_id: OMIM:619817
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA
gene_symbol: ITGA6
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: PLEC
disease_id: OMIM:131950
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
gene_symbol: PLEC
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: KRT14
disease_id: OMIM:601001
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
gene_symbol: DST
disease_id: OMIM:615425
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
Phenotype: Oral melanotic macule (HP:0032451)
Associated genes and diseases:
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
Phenotype: Abnormal lip pigmentation (HP:0032453)
Associated genes and diseases:
gene_symbol: CYB5A
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: CYB5R3
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
Phenotype: Labial melanotic macule (HP:0032454)
Associated genes and diseases:
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
Phenotype: Abnormal phosphoribosylpyrophosphate synthetase level (HP:0032459)
Associated genes and diseases:
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: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
Phenotype: Decreased phosphoribosylpyrophosphate synthetase level (HP:0032460)
Associated genes and diseases:
gene_symbol: PRPS1
disease_id: OMIM:311070
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
Phenotype: Ureteral hypoplasia (HP:0032464)
Associated genes and diseases:
gene_symbol: KIF14
disease_id: OMIM:616258
disease_name: MECKEL SYNDROME 12
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
Phenotype: Bladder trabeculation (HP:0032465)
Associated genes and diseases:
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: LRIG2
disease_id: OMIM:615112
disease_name: UROFACIAL SYNDROME 2
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated genes and diseases:
gene_symbol: KIAA0586
disease_id: OMIM:616546
disease_name: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
gene_symbol: FGFR1
disease_id: OMIM:147950
disease_name: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
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
gene_symbol: SEMA3A
disease_id: OMIM:614897
disease_name: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
gene_symbol: ERBB3
disease_id: OMIM:243180
disease_name: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: PROK2
disease_id: OMIM:610628
disease_name: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
gene_symbol: PROKR2
disease_id: OMIM:244200
disease_name: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
Phenotype: Past obstetric history (HP:0032467)
Associated genes and diseases:
gene_symbol: NLRP7
disease_id: OMIM:231090
disease_name: HYDATIDIFORM MOLE, RECURRENT, 1
Phenotype: History of stillbirth (HP:0032468)
Associated genes and diseases:
gene_symbol: NLRP7
disease_id: OMIM:231090
disease_name: HYDATIDIFORM MOLE, RECURRENT, 1
Phenotype: Monilethrix (HP:0032470)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
Phenotype: Focal polymicrogyria (HP:0032471)
Associated genes and diseases:
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: KAT5
disease_id: OMIM:619103
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
gene_symbol: TUBB
disease_id: OMIM:615771
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Phenotype: Abnormal urine urobilinogen level (HP:0032472)
Associated genes and diseases:
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
Phenotype: Abnormal circulating vitamin B6 concentration (HP:0032476)
Associated genes and diseases:
gene_symbol: TTR
disease_id: OMIM:115430
disease_name: CARPAL TUNNEL SYNDROME
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
Phenotype: Preimplantation lethality (HP:0032479)
Associated genes and diseases:
gene_symbol: PADI6
disease_id: OMIM:617234
disease_name: PREIMPLANTATION EMBRYONIC LETHALITY 2
Phenotype: Narrow jaw (HP:0012801)
Associated genes and diseases:
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: CCNK
disease_id: OMIM:618147
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
Phenotype: Broad jaw (HP:0012802)
Associated genes and diseases:
gene_symbol: ANO5
disease_id: ORPHA:53697
disease_name: Gnathodiaphyseal dysplasia
GDD
gene_symbol: SH3BP2
disease_id: ORPHA:184
disease_name: Cherubism
CRBM
gene_symbol: SNIP1
disease_id: OMIM:614501
disease_name: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: LRP5
disease_id: ORPHA:178377
disease_name: Osteosclerosis-developmental delay-craniosynostosis syndrome
Phenotype: Anisometropia (HP:0012803)
Associated genes and diseases:
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: RERE
disease_id: OMIM:616975
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
gene_symbol: FGFR2
disease_id: ORPHA:87
disease_name: Apert syndrome
ACS1
Acrocephalosyndactyly type 1
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: AP1G1
disease_id: OMIM:619467
disease_name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: CYP1B1
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: LTBP2
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: TEK
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
Phenotype: Iris transillumination defect (HP:0012805)
Associated genes and diseases:
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: ADAMTSL4
disease_id: OMIM:225200
disease_name: ECTOPIA LENTIS ET PUPILLAE
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: DCT
disease_id: OMIM:619165
disease_name: OCULOCUTANEOUS ALBINISM, TYPE VIII
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: WDR45
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: LRMDA
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: CPAMD8
disease_id: OMIM:617319
disease_name: ANTERIOR SEGMENT DYSGENESIS 8
gene_symbol: CHRDL1
disease_id: OMIM:309300
disease_name: MEGALOCORNEA
gene_symbol: MITF
disease_id: OMIM:617306
disease_name: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
Phenotype: Narrow nasal base (HP:0012809)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: METTL5
disease_id: OMIM:618665
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72
Phenotype: Beta-aminoisobutyric aciduria (HP:0032480)
Associated genes and diseases:
gene_symbol: AGXT2
disease_id: OMIM:210100
disease_name: BETA-AMINOISOBUTYRIC ACIDURIA
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
Phenotype: Abnormal pituitary glycoprotein hormone alpha subunit level (HP:0032481)
Associated genes and diseases:
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
Phenotype: Abnormal stool composition (HP:0031685)
Associated genes and diseases:
gene_symbol: RFX6
disease_id: OMIM:615710
disease_name: MITCHELL-RILEY SYNDROME
gene_symbol: BRCA1
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: BRCA2
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: PTPN3
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: ROS1
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: HSD3B7
disease_id: OMIM:607765
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
gene_symbol: MYO5B
disease_id: OMIM:619868
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10
gene_symbol: CYP7B1
disease_id: OMIM:613812
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3
gene_symbol: DCDC2
disease_id: OMIM:617394
disease_name: SCLEROSING CHOLANGITIS, NEONATAL
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
gene_symbol: EPCAM
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: PERCC1
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: UROS
disease_id: OMIM:263700
disease_name: PORPHYRIA, CONGENITAL ERYTHROPOIETIC
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
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: SLC10A2
disease_id: OMIM:613291
disease_name: BILE ACID MALABSORPTION, PRIMARY
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: PPOX
disease_id: OMIM:176200
disease_name: VARIEGATE PORPHYRIA
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
Phenotype: Elevated fecal sodium (HP:0032484)
Associated genes and diseases:
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Phenotype: Abnormal fecal osmolality (HP:0032485)
Associated genes and diseases:
gene_symbol: EPCAM
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: PERCC1
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Phenotype: Elevated fecal osmolality (HP:0032486)
Associated genes and diseases:
gene_symbol: EPCAM
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: PERCC1
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
Phenotype: Reduced fecal osmolality (HP:0032487)
Associated genes and diseases:
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Phenotype: Abnormal fecal pH (HP:0032488)
Associated genes and diseases:
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Phenotype: Elevated fecal pH (HP:0032489)
Associated genes and diseases:
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Phenotype: Wide nasal ridge (HP:0012811)
Associated genes and diseases:
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: METTL5
disease_id: OMIM:618665
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:609597
disease_name: PARIETAL FORAMINA 2
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: AP4M1
disease_id: OMIM:612936
disease_name: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
Phenotype: Fullness of paranasal tissue (HP:0012812)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Phenotype: Unilateral breast hypoplasia (HP:0012813)
Associated genes and diseases:
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: ACTB
disease_id: OMIM:604919
disease_name: BECKER NEVUS SYNDROME
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
Phenotype: Bilateral breast hypoplasia (HP:0012814)
Associated genes and diseases:
gene_symbol: TP63
disease_id: ORPHA:69085
disease_name: Limb-mammary syndrome
LMS
gene_symbol: FSHB
disease_id: ORPHA:52901
disease_name: Isolated follicle stimulating hormone deficiency
Isolated FSH deficiency
gene_symbol: NIN
disease_id: ORPHA:319675
disease_name: Microcephalic primordial dwarfism, Dauber type