TaoMedAI/RareMedData huggingface dataset:
Phenotype: Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)
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
Phenotype: Bone fracture (HP:0020110)
Associated genes and diseases:
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: SQSTM1
disease_id: OMIM:167250
disease_name: PAGET DISEASE OF BONE 3
gene_symbol: TNFRSF11A
disease_id: OMIM:602080
disease_name: PAGET DISEASE OF BONE 2, EARLY-ONSET
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
gene_symbol: CLCN7
disease_id: OMIM:166600
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
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: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: FGF23
disease_id: ORPHA:89937
disease_name: Autosomal dominant hypophosphatemic rickets
ADHR
Autosomal dominant hypophosphatemia
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: XYLT2
disease_id: OMIM:605822
disease_name: SPONDYLOOCULAR SYNDROME
gene_symbol: BICD2
disease_id: OMIM:618291
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
Phenotype: Abnormal glomerular mesangial cellularity (HP:0033231)
Associated genes and diseases:
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
gene_symbol: APOE
disease_id: OMIM:611771
disease_name: LIPOPROTEIN GLOMERULOPATHY
gene_symbol: NOP10
disease_id: OMIM:620425
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2
gene_symbol: SPRY2
disease_id: OMIM:616818
disease_name: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3
gene_symbol: KIRREL1
disease_id: OMIM:619201
disease_name: NEPHROTIC SYNDROME, TYPE 23
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: CFHR5
disease_id: OMIM:614809
disease_name: C3 GLOMERULOPATHY 3
Phenotype: Abnormal glomerular mesangial matrix morphology (HP:0033232)
Associated genes and diseases:
gene_symbol: CFHR5
disease_id: OMIM:614809
disease_name: C3 GLOMERULOPATHY 3
Phenotype: Increased CSF phenylalanine concentration (HP:0500223)
Associated genes and diseases:
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
Phenotype: Abnormal CSF serine family amino acid concentration (HP:0500225)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: GLRX5
disease_id: OMIM:616859
disease_name: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
gene_symbol: AMT
disease_id: OMIM:620398
disease_name: GLYCINE ENCEPHALOPATHY 2
gene_symbol: GLYCTK
disease_id: ORPHA:941
disease_name: D-glyceric aciduria
D-glycerate kinase deficiency
D-glyceric acidemia
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
Phenotype: Abnormal CSF serine concentration (HP:0500226)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Phenotype: Decreased CSF serine concentration (HP:0500228)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
Phenotype: Abnormal CSF glycine concentration (HP:0500229)
Associated genes and diseases:
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: GLRX5
disease_id: OMIM:616859
disease_name: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
gene_symbol: AMT
disease_id: OMIM:620398
disease_name: GLYCINE ENCEPHALOPATHY 2
gene_symbol: GLYCTK
disease_id: ORPHA:941
disease_name: D-glyceric aciduria
D-glycerate kinase deficiency
D-glyceric acidemia
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
Phenotype: Difficulty descending stairs (HP:0033235)
Associated genes and diseases:
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
Phenotype: Tympanosclerosis (HP:0020123)
Associated genes and diseases:
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Bite cells (HP:0020122)
Associated genes and diseases:
gene_symbol: KCNN4
disease_id: OMIM:616689
disease_name: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
gene_symbol: CDAN1
disease_id: OMIM:224120
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia
Phenotype: Spontaneous conjunctival filtering bleb (HP:0020125)
Associated genes and diseases:
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Phenotype: Periarticular soft-tissue mass (HP:0020127)
Associated genes and diseases:
gene_symbol: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
Phenotype: Aplasia of the olfactory tract (HP:0020128)
Associated genes and diseases:
gene_symbol: TGIF1
disease_id: OMIM:142946
disease_name: HOLOPROSENCEPHALY 4
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated genes and diseases:
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: DNAJC30
disease_id: OMIM:619382
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated genes and diseases:
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: GLRX5
disease_id: OMIM:616859
disease_name: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
gene_symbol: AMT
disease_id: OMIM:620398
disease_name: GLYCINE ENCEPHALOPATHY 2
gene_symbol: GLYCTK
disease_id: ORPHA:941
disease_name: D-glyceric aciduria
D-glycerate kinase deficiency
D-glyceric acidemia
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
Phenotype: Abnormal CSF pyruvate family amino acid concentration (HP:0500231)
Associated genes and diseases:
gene_symbol: LONP1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: PDHA1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: PDHX
disease_id: ORPHA:255182
disease_name: Pyruvate dehydrogenase E3-binding protein deficiency
2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
Phenotype: Abnormal CSF alanine concentration (HP:0500232)
Associated genes and diseases:
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
Phenotype: Increased CSF alanine concentration (HP:0500233)
Associated genes and diseases:
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
Phenotype: Abnormal CSF albumin concentration (HP:0500238)
Associated genes and diseases:
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: SLC12A2
disease_id: OMIM:619080
disease_name: KILQUIST SYNDROME
Phenotype: Increased CSF albumin concentration (HP:0500239)
Associated genes and diseases:
gene_symbol: SLC12A2
disease_id: OMIM:619080
disease_name: KILQUIST SYNDROME
Phenotype: Abnormal alveolar type II pneumocyte morphology (HP:0033245)
Associated genes and diseases:
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Thickening of the tubular basement membrane (HP:0020132)
Associated genes and diseases:
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: TMEM67
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: NPHP1
disease_id: OMIM:266900
disease_name: SENIOR-LOKEN SYNDROME 1
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
Phenotype: Abnormal tubular basement membrane morphology (HP:0020131)
Associated genes and diseases:
gene_symbol: XPNPEP3
disease_id: OMIM:613159
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
gene_symbol: NPHP1
disease_id: OMIM:256100
disease_name: NEPHRONOPHTHISIS 1
gene_symbol: TMEM67
disease_id: OMIM:613550
disease_name: NEPHRONOPHTHISIS 11
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
Phenotype: Anticardiolipin IgG antibody positivity (HP:0020136)
Associated genes and diseases:
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
Phenotype: Myofibromatosis (HP:0020135)
Associated genes and diseases:
gene_symbol: PDGFRB
disease_id: OMIM:228550
disease_name: MYOFIBROMATOSIS, INFANTILE, 1
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: NOTCH3
disease_id: OMIM:615293
disease_name: MYOFIBROMATOSIS, INFANTILE, 2
Phenotype: Nailfold capillary tortuosity (HP:0033250)
Associated genes and diseases:
gene_symbol: ANGPT1
disease_id: OMIM:619361
disease_name: ANGIOEDEMA, HEREDITARY, 5
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: MYOF
disease_id: OMIM:619366
disease_name: ANGIOEDEMA, HEREDITARY, 7
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated genes and diseases:
gene_symbol: ALOXE3
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: ALOXE3
disease_id: OMIM:606545
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
gene_symbol: ALOX12B
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: STS
disease_id: OMIM:308100
disease_name: ICHTHYOSIS, X-LINKED
gene_symbol: CERS3
disease_id: OMIM:615023
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
gene_symbol: FLG
disease_id: OMIM:146700
disease_name: ICHTHYOSIS VULGARIS
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated genes and diseases:
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SRPX2
disease_id: ORPHA:163721
disease_name: Rolandic epilepsy-speech dyspraxia syndrome
gene_symbol: GRIN2A
disease_id: ORPHA:163721
disease_name: Rolandic epilepsy-speech dyspraxia syndrome
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: EZH2
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: CFL2
disease_id: OMIM:610687
disease_name: NEMALINE MYOPATHY 7
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
Phenotype: Spinal cord tumor (HP:0010302)
Associated genes and diseases:
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
gene_symbol: ZFTA
disease_id: ORPHA:251636
disease_name: Ependymoma
Classic ependymoma
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: SMARCB1
disease_id: OMIM:162091
disease_name: SCHWANNOMATOSIS 1
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: OMIM:615670
disease_name: SCHWANNOMATOSIS 2
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: VANGL1
disease_id: OMIM:600145
disease_name: SACRAL DEFECT WITH ANTERIOR MENINGOCELE
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: RPL10
disease_id: ORPHA:435938
disease_name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
gene_symbol: TRAPPC14
disease_id: OMIM:618351
disease_name: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE
Phenotype: Absence of the sacrum (HP:0010305)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: VANGL1
disease_id: OMIM:600145
disease_name: SACRAL DEFECT WITH ANTERIOR MENINGOCELE
gene_symbol: VANGL1
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: FUZ
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: TBXT
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
gene_symbol: VANGL2
disease_id: OMIM:182940
disease_name: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: FANCB
disease_id: ORPHA:3412
disease_name: VACTERL with hydrocephalus
Sujansky-Leonard syndrome
Phenotype: Bifid sternum (HP:0010309)
Associated genes and diseases:
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: DACT1
disease_id: ORPHA:63260
disease_name: Craniorachischisis
Phenotype: Abnormal CSF ornithine concentration (HP:0500243)
Associated genes and diseases:
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
Phenotype: Reduced circulating interferon gamma concentration (HP:0033253)
Associated genes and diseases:
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED