TaoMedAI/RareMedData huggingface dataset:
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated genes and diseases:
gene_symbol: AMPD1
disease_id: ORPHA:45
disease_name: Adenosine monophosphate deaminase deficiency
AMP deaminase deficiency
Myoadenylate deaminase deficiency
gene_symbol: AMPD3
disease_id: ORPHA:45
disease_name: Adenosine monophosphate deaminase deficiency
AMP deaminase deficiency
Myoadenylate deaminase deficiency
gene_symbol: ALDOA
disease_id: ORPHA:57
disease_name: Glycogen storage disease due to aldolase A deficiency
GSD due to aldolase A deficiency
GSD type 12
GSD type XII
Glycogen storage disease type 12
Glycogen storage disease type XII
Glycogenosis due to aldolase A deficiency
Glycogenosis type 12
Glycogenosis type XII
gene_symbol: DNA2
disease_id: ORPHA:352470
disease_name: DNA2-related mitochondrial DNA deletion syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
mtDNA deletion syndrome with limb-girdle weakness
mtDNA deletion syndrome with progressive myopathy
gene_symbol: LDHA
disease_id: ORPHA:284426
disease_name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
GSD due to lactate dehydrogenase M-subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
LDH-M subunit deficiency
Lactate dehydrogenase A deficiency
gene_symbol: ACAD9
disease_id: ORPHA:99901
disease_name: Acyl-CoA dehydrogenase 9 deficiency
ACAD9 deficiency
gene_symbol: ANO5
disease_id: ORPHA:206599
disease_name: Isolated asymptomatic elevation of creatine phosphokinase
Idiopathic asymptomatic hyperCKemia
Isolated asymptomatic hyperCKemia
gene_symbol: DAG1
disease_id: ORPHA:206599
disease_name: Isolated asymptomatic elevation of creatine phosphokinase
Idiopathic asymptomatic hyperCKemia
Isolated asymptomatic hyperCKemia
gene_symbol: CAV3
disease_id: ORPHA:206599
disease_name: Isolated asymptomatic elevation of creatine phosphokinase
Idiopathic asymptomatic hyperCKemia
Isolated asymptomatic hyperCKemia
gene_symbol: DPM3
disease_id: ORPHA:263494
disease_name: DPM3-CDG
CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io
gene_symbol: SLC25A20
disease_id: ORPHA:159
disease_name: Carnitine-acylcarnitine translocase deficiency
CACT deficiency
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
Phenotype: Complex organic aciduria (HP:0008336)
Associated genes and diseases:
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
Phenotype: Partial functional complement factor D deficiency (HP:0008338)
Associated genes and diseases:
gene_symbol: CFD
disease_id: OMIM:613912
disease_name: COMPLEMENT FACTOR D DEFICIENCY
Phenotype: Diaminoaciduria (HP:0008339)
Associated genes and diseases:
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
gene_symbol: ARG1
disease_id: ORPHA:90
disease_name: Argininemia
Arginase deficiency
Hyperargininemia
Phenotype: Fragmented, irregular epiphyses (HP:0005063)
Associated genes and diseases:
gene_symbol: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
Phenotype: Cone-shaped epiphyses fused within their metaphyses (HP:0005066)
Associated genes and diseases:
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
Phenotype: Proximal fibular overgrowth (HP:0005067)
Associated genes and diseases:
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
Phenotype: Absent styloid process of ulna (HP:0005068)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
Phenotype: Fragmented epiphyses (HP:0100168)
Associated genes and diseases:
gene_symbol: COL9A1
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A2
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A3
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: KIF22
disease_id: ORPHA:93360
disease_name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Phenotype: Limited elbow flexion/extension (HP:0005060)
Associated genes and diseases:
gene_symbol: KCNK9
disease_id: ORPHA:166108
disease_name: Birk-Barel syndrome
Birk-Barel Intellectual Disability-Dimorphism syndrome
Intellectual disability-hypotonia-facial dysmorphism syndrome
KCNK9 imprinting syndrome
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated genes and diseases:
gene_symbol: GATA3
disease_id: OMIM:146255
disease_name: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: HNF1B
disease_id: ORPHA:1309
disease_name: Medullary sponge kidney
Cacchi-Ricci disease
MSK
Precalicial canalicular ectasia
gene_symbol: SLC4A1
disease_id: OMIM:611590
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
gene_symbol: SLC4A1
disease_id: OMIM:179800
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 1
gene_symbol: CA2
disease_id: OMIM:259730
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
Phenotype: Elevated circulating branched chain amino acid concentration (HP:0008344)
Associated genes and diseases:
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: BCKDHA
disease_id: OMIM:248600
disease_name: MAPLE SYRUP URINE DISEASE
Phenotype: Increased red cell sickling tendency (HP:0008346)
Associated genes and diseases:
gene_symbol: HBB
disease_id: OMIM:603903
disease_name: SICKLE CELL ANEMIA
gene_symbol: HBB
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: BCL11A
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: KLF1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG2
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated genes and diseases:
gene_symbol: F8
disease_id: OMIM:306700
disease_name: HEMOPHILIA A
gene_symbol: F8
disease_id: ORPHA:177926
disease_name: Bleeding disorder in hemophilia A carriers
gene_symbol: F8
disease_id: ORPHA:169805
disease_name: Moderate hemophilia A
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
gene_symbol: F8
disease_id: ORPHA:169802
disease_name: Severe hemophilia A
Severe congenital F8 deficiency
Severe congenital factor VIII deficiency
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: VWF
disease_id: OMIM:277480
disease_name: VON WILLEBRAND DISEASE, TYPE 3
gene_symbol: LMAN1
disease_id: OMIM:227300
disease_name: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1
gene_symbol: LMAN1
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: MCFD2
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: MCFD2
disease_id: OMIM:613625
disease_name: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
Phenotype: Wrist hypermobility (HP:0005072)
Associated genes and diseases:
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: RNF13
disease_id: ORPHA:544503
disease_name: RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: COL6A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
gene_symbol: COL12A1
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: Dumbbell-shaped metaphyses (HP:0002810)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
Phenotype: Neutral hyperaminoaciduria (HP:0008353)
Associated genes and diseases:
gene_symbol: SLC6A19
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: SLC6A19
disease_id: OMIM:234500
disease_name: HARTNUP DISORDER
gene_symbol: CLTRN
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
Phenotype: Factor X activation deficiency (HP:0008354)
Associated genes and diseases:
gene_symbol: ANO6
disease_id: OMIM:262890
disease_name: SCOTT SYNDROME
Phenotype: Reduced factor XIII activity (HP:0008357)
Associated genes and diseases:
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13B
disease_id: OMIM:613235
disease_name: FACTOR XIII, B SUBUNIT, DEFICIENCY OF
gene_symbol: F13A1
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13A1
disease_id: OMIM:613225
disease_name: FACTOR XIII, A SUBUNIT, DEFICIENCY OF
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
Phenotype: Hyperprolinemia (HP:0008358)
Associated genes and diseases:
gene_symbol: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: PRODH
disease_id: OMIM:600850
disease_name: SCHIZOPHRENIA 4
gene_symbol: PRODH
disease_id: OMIM:239500
disease_name: HYPERPROLINEMIA, TYPE I
gene_symbol: PRODH
disease_id: ORPHA:419
disease_name: Hyperprolinemia type 1
Proline oxidase deficiency
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: NDUFB10
disease_id: OMIM:619003
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
gene_symbol: COX16
disease_id: OMIM:619355
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22
gene_symbol: SLC6A18
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC36A2
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC6A20
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: SLC6A19
disease_id: ORPHA:42062
disease_name: Iminoglycinuria
gene_symbol: LIPT1
disease_id: OMIM:616299
disease_name: LIPOYLTRANSFERASE 1 DEFICIENCY
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: ATP5F1A
disease_id: OMIM:620358
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: ALDH4A1
disease_id: OMIM:239510
disease_name: HYPERPROLINEMIA, TYPE II
gene_symbol: PDP1
disease_id: ORPHA:79246
disease_name: Pyruvate dehydrogenase phosphatase deficiency
PDH phosphatase deficiency
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: TARS2
disease_id: OMIM:615918
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
Phenotype: Anterior radial head dislocation (HP:0005084)
Associated genes and diseases:
gene_symbol: IFITM5
disease_id: OMIM:610967
disease_name: OSTEOGENESIS IMPERFECTA, TYPE V
Phenotype: Limited knee flexion/extension (HP:0005085)
Associated genes and diseases:
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: DYSF
disease_id: ORPHA:268
disease_name: Dysferlin-related limb-girdle muscular dystrophy R2
Autosomal recessive limb-girdle muscular dystrophy type 2B
Dysferlin-related LGMD R2
LGMD due to dysferlin deficiency
LGMD type 2B
LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy type 2B
gene_symbol: MYOT
disease_id: ORPHA:98911
disease_name: Distal myotilinopathy
Phenotype: Abnormal tarsal ossification (HP:0008369)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: MATN3
disease_id: OMIM:607078
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Phenotype: Hemiatrophy (HP:0100556)
Associated genes and diseases:
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
Phenotype: Streaky metaphyseal sclerosis (HP:0005092)
Associated genes and diseases:
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
Phenotype: Distal femoral bowing (HP:0005096)
Associated genes and diseases:
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ENPP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: GDF5
disease_id: OMIM:201250
disease_name: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
Phenotype: Abnormal metatarsal ossification (HP:0008371)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
Phenotype: Abnormal circulating vitamin A concentration (HP:0008372)
Associated genes and diseases:
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: SLC51B
disease_id: OMIM:619481
disease_name: BILE ACID MALABSORPTION, PRIMARY, 2
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: BCO1
disease_id: OMIM:115300
disease_name: HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: GBA2
disease_id: ORPHA:352641
disease_name: Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: CYP7A1
disease_id: ORPHA:209902
disease_name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Phenotype: Laryngeal cartilage malformation (HP:0008752)
Associated genes and diseases:
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: SLC26A2
disease_id: ORPHA:56304
disease_name: Atelosteogenesis type II
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated genes and diseases:
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: PLEC
disease_id: ORPHA:257
disease_name: Epidermolysis bullosa simplex with muscular dystrophy
EBS with muscular dystrophy
EBS-MD
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
Phenotype: Slow-growing nails (HP:0008383)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
Phenotype: Recurrent loss of toenails and fingernails (HP:0008390)
Associated genes and diseases:
gene_symbol: COL7A1
disease_id: ORPHA:231568
disease_name: Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB
gene_symbol: COL7A1
disease_id: ORPHA:158673
disease_name: Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, acral form
gene_symbol: LAMA3
disease_id: OMIM:245660
disease_name: LARYNGOONYCHOCUTANEOUS SYNDROME
Phenotype: Subungual hyperkeratosis (HP:0008392)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: OMIM:300918
disease_name: OLMSTED SYNDROME, X-LINKED
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: CARD14
disease_id: OMIM:173200
disease_name: PITYRIASIS RUBRA PILARIS
gene_symbol: CARD14
disease_id: ORPHA:2897
disease_name: Pityriasis rubra pilaris
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: KRT6B
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT17
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
Phenotype: Congenital onychodystrophy (HP:0008394)
Associated genes and diseases:
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Phenotype: Onychogryphosis of toenails (HP:0008401)
Associated genes and diseases:
gene_symbol: PLEC
disease_id: OMIM:131950
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
gene_symbol: COL7A1
disease_id: ORPHA:158676
disease_name: Localized dystrophic epidermolysis bullosa, nails only
Localized DEB, nails only
gene_symbol: KRT6A
disease_id: OMIM:615726
disease_name: PACHYONYCHIA CONGENITA 3
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT16
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KLHL24
disease_id: OMIM:617294
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
Phenotype: Chronic monilial nail infection (HP:0008396)
Associated genes and diseases:
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease