TaoMedAI/RareMedData huggingface dataset:
Phenotype: Short telomere length (HP:0031413)
Associated genes and diseases:
gene_symbol: TYMS
disease_id: OMIM:620040
disease_name: DYSKERATOSIS CONGENITA, DIGENIC
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: RTEL1
disease_id: OMIM:616373
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
gene_symbol: ZCCHC8
disease_id: OMIM:618674
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5
gene_symbol: PARN
disease_id: OMIM:616371
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
gene_symbol: PARN
disease_id: OMIM:616353
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: ACD
disease_id: OMIM:616553
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
gene_symbol: TP53
disease_id: OMIM:618165
disease_name: BONE MARROW FAILURE SYNDROME 5
gene_symbol: TERT
disease_id: OMIM:614742
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
gene_symbol: MDM4
disease_id: OMIM:618849
disease_name: BONE MARROW FAILURE SYNDROME 6
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: NOP10
disease_id: OMIM:620400
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9
gene_symbol: POT1
disease_id: OMIM:620367
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8
gene_symbol: WRAP53
disease_id: OMIM:613988
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Phenotype: High serum calcifediol (HP:0031414)
Associated genes and diseases:
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
Phenotype: High serum calcitriol (HP:0031415)
Associated genes and diseases:
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
gene_symbol: SLC34A1
disease_id: OMIM:613388
disease_name: FANCONI RENOTUBULAR SYNDROME 2
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: CLCN5
disease_id: OMIM:300554
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
gene_symbol: CLCN5
disease_id: OMIM:300009
disease_name: DENT DISEASE 1
gene_symbol: KL
disease_id: OMIM:617994
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
Phenotype: Abnormal nasal mucus secretion (HP:0031416)
Associated genes and diseases:
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: LRRC56
disease_id: OMIM:618254
disease_name: CILIARY DYSKINESIA, PRIMARY, 39
gene_symbol: DNAH1
disease_id: OMIM:617577
disease_name: CILIARY DYSKINESIA, PRIMARY, 37
gene_symbol: SCN9A
disease_id: OMIM:167400
disease_name: PAROXYSMAL EXTREME PAIN DISORDER
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
Phenotype: Rhinorrhea (HP:0031417)
Associated genes and diseases:
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: ODAD1
disease_id: OMIM:615067
disease_name: CILIARY DYSKINESIA, PRIMARY, 20
gene_symbol: LRRC56
disease_id: OMIM:618254
disease_name: CILIARY DYSKINESIA, PRIMARY, 39
gene_symbol: DNAH1
disease_id: OMIM:617577
disease_name: CILIARY DYSKINESIA, PRIMARY, 37
gene_symbol: SCN9A
disease_id: OMIM:167400
disease_name: PAROXYSMAL EXTREME PAIN DISORDER
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
gene_symbol: CCDC40
disease_id: OMIM:613808
disease_name: CILIARY DYSKINESIA, PRIMARY, 15
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
Phenotype: Increased body mass index (HP:0031418)
Associated genes and diseases:
gene_symbol: FLT1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STOX1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: CORIN
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: THOC2
disease_id: OMIM:300957
disease_name: MENTAL RETARDATION, X-LINKED 12
gene_symbol: THRA
disease_id: OMIM:614450
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
Phenotype: Abnormal cerebellar cortex morphology (HP:0031422)
Associated genes and diseases:
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: POLG
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: TWNK
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Phenotype: Small cerebellar cortex (HP:0031423)
Associated genes and diseases:
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Phenotype: Abnormal circulating beta-C-terminal telopeptide concentration (HP:0031424)
Associated genes and diseases:
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
Phenotype: Increased circulating beta-C-terminal telopeptide concentration (HP:0031425)
Associated genes and diseases:
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
Phenotype: Abnormal circulating osteocalcin level (HP:0031427)
Associated genes and diseases:
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: COL2A1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: FAM20A
disease_id: ORPHA:1031
disease_name: Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: ESR1
disease_id: OMIM:615363
disease_name: ESTROGEN RESISTANCE
gene_symbol: AVP
disease_id: OMIM:125700
disease_name: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
Phenotype: Increased circulating osteocalcin level (HP:0031428)
Associated genes and diseases:
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: FAM20A
disease_id: ORPHA:1031
disease_name: Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: ESR1
disease_id: OMIM:615363
disease_name: ESTROGEN RESISTANCE
Phenotype: Decreased circulating osteocalcin level (HP:0031429)
Associated genes and diseases:
gene_symbol: AVP
disease_id: OMIM:125700
disease_name: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
Phenotype: Abnormal keratinocyte morphology (HP:0034702)
Associated genes and diseases:
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
Phenotype: Keratinocyte vacuolization (HP:0034703)
Associated genes and diseases:
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
Phenotype: Reduced hepatic D-glycerate kinase activity (HP:0034706)
Associated genes and diseases:
gene_symbol: GLYCTK
disease_id: OMIM:220120
disease_name: D-GLYCERIC ACIDURIA
Phenotype: Oligoclonal T cell expansion (HP:0031430)
Associated genes and diseases:
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
Phenotype: Monotonic speech (HP:0031435)
Associated genes and diseases:
gene_symbol: GBA1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: DNAJC13
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: EIF4G1
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: VPS35
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: LRRK2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: GIGYF2
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: SNCA
disease_id: ORPHA:411602
disease_name: Hereditary late-onset Parkinson disease
Autosomal dominant late-onset Parkinson disease
LOPD
gene_symbol: SNCA
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
gene_symbol: FBXO7
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
gene_symbol: FBXO7
disease_id: OMIM:260300
disease_name: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: CWF19L1
disease_id: ORPHA:453521
disease_name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
SCAR17
Spinocerebellar ataxia autosomal recessive type 17
Phenotype: Pregnancy exposure (HP:0031437)
Associated genes and diseases:
gene_symbol: MSX1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: NECTIN1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: IRF6
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: MME
disease_id: ORPHA:69063
disease_name: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Alloimmune neonatal renal disease
FMAIG
Fetomaternal alloimmunization with antenatal glomerulopathies
Neonatal glomerulopathy due to neprilysin alloimmunization
Neonatal membranous glomerulopathy with maternal NEP deficiency
Neonatal membranous glomerulopathy with maternal neutral endopeptidase 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
Phenotype: Decreased circulating alpha-mannosidase activity (HP:0034712)
Associated genes and diseases:
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
Phenotype: Abnormal hepatocyte morphology (HP:0034713)
Associated genes and diseases:
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: SLC25A13
disease_id: OMIM:603471
disease_name: CITRULLINEMIA, TYPE II, ADULT-ONSET
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Phenotype: Hepatic melanin-like lysosomal pigmentation (HP:0034714)
Associated genes and diseases:
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
Phenotype: Reduced uroporphyrinogen decarboxylase activity (HP:0034715)
Associated genes and diseases:
gene_symbol: UROD
disease_id: OMIM:176100
disease_name: PORPHYRIA CUTANEA TARDA
Phenotype: Lack of oocyte pronucleus formation (HP:0034719)
Associated genes and diseases:
gene_symbol: WEE2
disease_id: OMIM:617996
disease_name: OOCYTE MATURATION DEFECT 5
Phenotype: Abnormal tricuspid chordae tendinae morphology (HP:0031442)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:314400
disease_name: CARDIAC VALVULAR DYSPLASIA, X-LINKED
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
Phenotype: Oral mucosa nodule (HP:0031445)
Associated genes and diseases:
gene_symbol: GLMN
disease_id: ORPHA:83454
disease_name: Glomuvenous malformation
Glomangiomatosis
Hereditary multiple glomangiomas
Multiple glomus tumors
VMGLOM
Venous malformations with glomus cells
Phenotype: Penile freckling (HP:0031447)
Associated genes and diseases:
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PTEN
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
gene_symbol: PTEN
disease_id: OMIM:605309
disease_name: MACROCEPHALY/AUTISM SYNDROME
gene_symbol: HEPACAM
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
Phenotype: Self-healing squamous epithelioma (HP:0034720)
Associated genes and diseases:
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR1
disease_id: OMIM:132800
disease_name: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
Phenotype: Elevated circulating pristanic acid concentration (HP:0034721)
Associated genes and diseases:
gene_symbol: SCP2
disease_id: OMIM:613724
disease_name: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
Phenotype: Sarcoplasmic bodies (HP:0034722)
Associated genes and diseases:
gene_symbol: MB
disease_id: OMIM:620286
disease_name: MYOPATHY, SARCOPLASMIC BODY
Phenotype: Abnormal circulating beta-mannosidase activity (HP:0034725)
Associated genes and diseases:
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
Phenotype: Reduced circulating alpha-L-fucosidase activity (HP:0034727)
Associated genes and diseases:
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
Phenotype: Abnormal circulating alpha-L-fucosidase activity (HP:0034728)
Associated genes and diseases:
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
Phenotype: Lichenoid skin lesion (HP:0031452)
Associated genes and diseases:
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: SLURP1
disease_id: ORPHA:87503
disease_name: Mal de Meleda
Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens
Phenotype: Apocrine hidrocystoma (HP:0031454)
Associated genes and diseases:
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
Phenotype: Soft tissue neoplasm (HP:0031459)
Associated genes and diseases:
gene_symbol: COL4A3
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A4
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A5
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
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
gene_symbol: NAB2
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: STAT6
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: MUTYH
disease_id: ORPHA:247798
disease_name: MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related AFAP
MUTYH-related attenuated FAP
MUTYH-related attenuated familial polyposis coli
gene_symbol: CTNNB1
disease_id: ORPHA:873
disease_name: Desmoid tumor
Aggressive fibromatosis
Desmoid type fibromatosis
gene_symbol: APC
disease_id: ORPHA:873
disease_name: Desmoid tumor
Aggressive fibromatosis
Desmoid type fibromatosis
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: APC
disease_id: OMIM:135290
disease_name: DESMOID DISEASE, HEREDITARY
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: POT1
disease_id: OMIM:615848
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
Phenotype: Elevated circulating S-adenosyl-L-homocysteine concentration (HP:0034730)
Associated genes and diseases:
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Phenotype: Elevated circulating S-adenosyl-L-methionine concentration (HP:0034731)
Associated genes and diseases:
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Phenotype: Elevated CSF argininosuccinic acid concentration (HP:0034734)
Associated genes and diseases:
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
Phenotype: Abnormal erythrocyte metabolite concentration (HP:0034737)
Associated genes and diseases:
gene_symbol: PFKM
disease_id: OMIM:232800
disease_name: GLYCOGEN STORAGE DISEASE VII
gene_symbol: PKLR
disease_id: OMIM:102900
disease_name: ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
gene_symbol: ITPA
disease_id: OMIM:613850
disease_name: INOSINE TRIPHOSPHATASE DEFICIENCY
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY