TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal cerebral vein morphology (HP:0012480)
Associated genes and diseases:
gene_symbol: MSX2
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ALX4
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: EPHB4
disease_id: OMIM:618196
disease_name: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Abnormal alpha granules (HP:0012483)
Associated genes and diseases:
gene_symbol: VPS33B
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: VIPAS39
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: GATA1
disease_id: OMIM:314050
disease_name: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
Phenotype: Desquamative interstitial pneumonitis (HP:0005942)
Associated genes and diseases:
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: STAT3
disease_id: OMIM:615952
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
Phenotype: Bilateral lung agenesis (HP:0005944)
Associated genes and diseases:
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: RSPO2
disease_id: OMIM:618021
disease_name: TETRAAMELIA SYNDROME 2
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
Phenotype: Ventilator dependence with inability to wean (HP:0005946)
Associated genes and diseases:
gene_symbol: TK2
disease_id: ORPHA:254875
disease_name: Mitochondrial DNA depletion syndrome, myopathic form
mtDNA depletion syndrome, myopathic form
gene_symbol: MT-TE
disease_id: ORPHA:254864
disease_name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
gene_symbol: TRMU
disease_id: ORPHA:254864
disease_name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: IGHMBP2
disease_id: OMIM:604320
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
Phenotype: Decreased sensitivity to hypoxemia (HP:0005947)
Associated genes and diseases:
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
Phenotype: Multiple pulmonary cysts (HP:0005948)
Associated genes and diseases:
gene_symbol: YARS1
disease_id: OMIM:619418
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
gene_symbol: CCR2
disease_id: OMIM:219600
disease_name: POLYCYSTIC LUNG DISEASE
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: CFAP221
disease_id: OMIM:279000
disease_name: YOUNG SYNDROME
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: SFTPC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA2
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: STN1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: DSP
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: MUC5B
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: FAM13A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ATP11A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DPP9
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: RTEL1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: OMIM:616371
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
gene_symbol: TERT
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
Phenotype: Skull asymmetry (HP:0002678)
Associated genes and diseases:
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: FTO
disease_id: OMIM:612938
disease_name: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated genes and diseases:
gene_symbol: FGF13
disease_id: OMIM:301058
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
gene_symbol: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: CC2D2A
disease_id: OMIM:619111
disease_name: COACH SYNDROME 2
gene_symbol: NACC1
disease_id: ORPHA:500545
disease_name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
gene_symbol: SCN4A
disease_id: OMIM:608390
disease_name: MYOTONIA, POTASSIUM-AGGRAVATED
gene_symbol: HACD1
disease_id: OMIM:619967
disease_name: CONGENITAL MYOPATHY 11
gene_symbol: ACADSB
disease_id: OMIM:610006
disease_name: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: SCN5A
disease_id: OMIM:272120
disease_name: SUDDEN INFANT DEATH SYNDROME
gene_symbol: FBP1
disease_id: ORPHA:348
disease_name: Fructose-1,6-bisphosphatase deficiency
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
Phenotype: Carotid artery occlusion (HP:0012474)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated genes and diseases:
gene_symbol: CD81
disease_id: OMIM:613496
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 6
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: CR2
disease_id: OMIM:614699
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 7
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
Phenotype: Setting-sun eye phenomenon (HP:0012470)
Associated genes and diseases:
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
Phenotype: Decreased transferrin saturation (HP:0012464)
Associated genes and diseases:
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: FTL
disease_id: OMIM:600886
disease_name: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: STEAP3
disease_id: ORPHA:300298
disease_name: Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia
gene_symbol: BCS1L
disease_id: ORPHA:53693
disease_name: GRACILE syndrome
Fellman disease
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:231222
disease_name: Beta-thalassemia intermedia
gene_symbol: STEAP3
disease_id: ORPHA:300298
disease_name: Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital hypochromic sideroblastic anemia
gene_symbol: STEAP3
disease_id: OMIM:615234
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
gene_symbol: FTL
disease_id: ORPHA:254704
disease_name: Genetic hyperferritinemia without iron overload
Benign hyperferritinemia
gene_symbol: GLRX5
disease_id: OMIM:616860
disease_name: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: SLC11A2
disease_id: OMIM:206100
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: FTH1
disease_id: OMIM:615517
disease_name: HEMOCHROMATOSIS, TYPE 5
gene_symbol: FARS2
disease_id: OMIM:614946
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
gene_symbol: BCS1L
disease_id: ORPHA:53693
disease_name: GRACILE syndrome
Fellman disease
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
gene_symbol: BMP6
disease_id: OMIM:620121
disease_name: IRON OVERLOAD, SUSCEPTIBILITY TO
Phenotype: Laryngeal web (HP:0005950)
Associated genes and diseases:
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
Phenotype: Progressive inspiratory stridor (HP:0005951)
Associated genes and diseases:
gene_symbol: SLC52A3
disease_id: OMIM:211500
disease_name: FAZIO-LONDE DISEASE
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated genes and diseases:
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: TPI1
disease_id: ORPHA:868
disease_name: Triose phosphate-isomerase deficiency
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: REEP1
disease_id: OMIM:620011
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: TTN
disease_id: OMIM:603689
disease_name: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: TRPV4
disease_id: OMIM:181405
disease_name: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
gene_symbol: MEGF10
disease_id: OMIM:614399
disease_name: MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
gene_symbol: SLC52A3
disease_id: OMIM:211500
disease_name: FAZIO-LONDE DISEASE
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: IGHMBP2
disease_id: OMIM:604320
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
gene_symbol: PMP22
disease_id: ORPHA:101081
disease_name: Charcot-Marie-Tooth disease type 1A
CMT1A
Microduplication 17p12
gene_symbol: COL12A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
Phenotype: Pulmonary capillary hemangiomatosis (HP:0005954)
Associated genes and diseases:
gene_symbol: EIF2AK4
disease_id: OMIM:234810
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
Phenotype: Breathing dysregulation (HP:0005957)
Associated genes and diseases:
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: RPGRIP1L
disease_id: OMIM:611560
disease_name: JOUBERT SYNDROME 7
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
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: TMEM67
disease_id: OMIM:610688
disease_name: JOUBERT SYNDROME 6
gene_symbol: KYNU
disease_id: ORPHA:79155
disease_name: Hydroxykynureninuria
Kynureninase deficiency
Xanthurenic aciduria
gene_symbol: RET
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: ASCL1
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: PHOX2B
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: NDUFS6
disease_id: OMIM:618232
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
Phenotype: Broad skull (HP:0002682)
Associated genes and diseases:
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: ADAMTS10
disease_id: OMIM:277600
disease_name: WEILL-MARCHESANI SYNDROME 1
Phenotype: Absent paranasal sinuses (HP:0002689)
Associated genes and diseases:
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: SFRP4
disease_id: OMIM:265900
disease_name: PYLE DISEASE
Phenotype: Impaired gluconeogenesis (HP:0005959)
Associated genes and diseases:
gene_symbol: PCK1
disease_id: OMIM:261680
disease_name: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC
gene_symbol: SLC22A5
disease_id: OMIM:212140
disease_name: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
gene_symbol: PCK2
disease_id: OMIM:261650
disease_name: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL
Phenotype: Splayed epiphyses (HP:0200003)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
Phenotype: Dysharmonic skeletal maturation (HP:0200000)
Associated genes and diseases:
gene_symbol: CENPT
disease_id: OMIM:618702
disease_name: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
Phenotype: Acrokeratosis (HP:0200016)
Associated genes and diseases:
gene_symbol: ATP2A2
disease_id: OMIM:101900
disease_name: ACROKERATOSIS VERRUCIFORMIS
gene_symbol: ATP2A2
disease_id: ORPHA:218
disease_name: Darier disease
Darier-White disease
Keratosis follicularis
gene_symbol: ATP2A2
disease_id: OMIM:124200
disease_name: DARIER-WHITE DISEASE
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: PTEN
disease_id: ORPHA:65285
disease_name: Lhermitte-Duclos disease
Dysplastic gangliocytoma of the cerebellum
LDD
gene_symbol: LTV1
disease_id: OMIM:620199
disease_name: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES
Phenotype: Protanomaly (HP:0200018)
Associated genes and diseases:
gene_symbol: OPN1LW
disease_id: OMIM:303900
disease_name: COLORBLINDNESS, PARTIAL, PROTAN SERIES