TaoMedAI/RareMedData huggingface dataset:
Phenotype: Deep plantar creases (HP:0001869)
Associated genes and diseases:
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: PIGN
disease_id: OMIM:614080
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: PRKD1
disease_id: OMIM:617364
disease_name: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNH1
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: ABCC9
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
Phenotype: Decreased circulating carboxypeptidase N activity (HP:6000560)
Associated genes and diseases:
gene_symbol: CPN1
disease_id: OMIM:212070
disease_name: CARBOXYPEPTIDASE N DEFICIENCY
Phenotype: Reduced circulating adenosine deaminase-2 activity (HP:6000562)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Phenotype: Reduced sepiapterin reductase activity in cultured fibroblasts (HP:6000563)
Associated genes and diseases:
gene_symbol: SPR
disease_id: OMIM:612716
disease_name: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Phenotype: Increased subcutaneous truncal adipose tissue (HP:0009003)
Associated genes and diseases:
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated genes and diseases:
gene_symbol: KLHL9
disease_id: ORPHA:399081
disease_name: KLHL9-related early-onset distal myopathy
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: HNRNPA1
disease_id: ORPHA:399086
disease_name: Finnish upper limb-onset distal myopathy
Distal myopathy type 3
MPD3
gene_symbol: SIGMAR1
disease_id: OMIM:614373
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
gene_symbol: DYSF
disease_id: ORPHA:178400
disease_name: Distal myopathy with anterior tibial onset
Distal anterior compartment myopathy
gene_symbol: VCP
disease_id: ORPHA:329478
disease_name: Adult-onset distal myopathy due to VCP mutation
gene_symbol: VCP
disease_id: OMIM:616687
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
gene_symbol: FBXO38
disease_id: OMIM:615575
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: NEB
disease_id: ORPHA:399103
disease_name: Distal nebulin myopathy
Nebulin-related early-onset distal myopathy
gene_symbol: CAV3
disease_id: ORPHA:488650
disease_name: Distal myopathy, Tateyama type
gene_symbol: LDB3
disease_id: ORPHA:98912
disease_name: Late-onset distal myopathy, Markesbery-Griggs type
ZASP-related myofibrillar myopathy
gene_symbol: SCN4A
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNA1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: LRP4
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNB1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRND
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: MUSK
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: RAPSN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AK9
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: DOK7
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: MB
disease_id: OMIM:620286
disease_name: MYOPATHY, SARCOPLASMIC BODY
gene_symbol: STIM1
disease_id: OMIM:160565
disease_name: MYOPATHY, TUBULAR AGGREGATE, 1
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: LMNA
disease_id: OMIM:248370
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
gene_symbol: LMNA
disease_id: ORPHA:90153
disease_name: Mandibuloacral dysplasia with type A lipodystrophy
MADA
gene_symbol: RETREG1
disease_id: OMIM:613115
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
gene_symbol: CTSC
disease_id: ORPHA:2342
disease_name: Haim-Munk syndrome
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
gene_symbol: ZMPSTE24
disease_id: OMIM:608612
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
gene_symbol: ZMPSTE24
disease_id: ORPHA:90154
disease_name: Mandibuloacral dysplasia with type B lipodystrophy
Phenotype: Midline notching of lower lip (HP:6000569)
Associated genes and diseases:
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
Phenotype: Reduced tissue thymidine phosphorylase activity (HP:6000570)
Associated genes and diseases:
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Phenotype: Reduced tissue tripeptidyl peptidase 1 activity (HP:6000571)
Associated genes and diseases:
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
Phenotype: Reduced tissue arginine:glycine amidinotransferase activity (HP:6000572)
Associated genes and diseases:
gene_symbol: GATM
disease_id: OMIM:612718
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
Phenotype: Reduced tissue aspartylglucosaminidase activity (HP:6000573)
Associated genes and diseases:
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
Phenotype: Reduced tissue carnitine-acylcarnitine translocase activity (HP:6000574)
Associated genes and diseases:
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Phenotype: Reduced circulating 6-pyruvoyltetrahydropterin synthase activity (HP:6000575)
Associated genes and diseases:
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Phenotype: Reduced tissue mannosyl-oligosaccharide glucosidase activity (HP:6000576)
Associated genes and diseases:
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
Phenotype: Reduced tissue 3-methylglutaconyl-CoA hydratase activity (HP:6000577)
Associated genes and diseases:
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
Phenotype: Upper limb muscle hypoplasia (HP:0009016)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
Phenotype: Loss of gluteal subcutaneous adipose tissue (HP:0009017)
Associated genes and diseases:
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: PLIN1
disease_id: ORPHA:280356
disease_name: PLIN1-related familial partial lipodystrophy
FPLD4
PLIN1-related FPLD
gene_symbol: PPARG
disease_id: OMIM:604367
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
Phenotype: Progressive loss of facial adipose tissue (HP:0009019)
Associated genes and diseases:
gene_symbol: LMNB2
disease_id: OMIM:608709
disease_name: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated genes and diseases:
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: PMP22
disease_id: OMIM:118300
disease_name: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: VIPAS39
disease_id: OMIM:613404
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
gene_symbol: NEFL
disease_id: ORPHA:99939
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2E
CMT2E
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: PLA2G6
disease_id: OMIM:610217
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
gene_symbol: SPECC1L
disease_id: OMIM:600251
disease_name: FACIAL CLEFTING, OBLIQUE, 1
Phenotype: Short 2nd toe (HP:0001885)
Associated genes and diseases:
gene_symbol: HOXA13
disease_id: OMIM:176305
disease_name: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
Phenotype: Foot osteomyelitis (HP:0001886)
Associated genes and diseases:
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
gene_symbol: CCT5
disease_id: ORPHA:139578
disease_name: Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating HSAN with spastic paraplegia
gene_symbol: RAB7A
disease_id: OMIM:600882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
gene_symbol: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
Phenotype: Reduced tissue gamma-glutamyltransferase activity (HP:6000578)
Associated genes and diseases:
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
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: PFKM
disease_id: OMIM:232800
disease_name: GLYCOGEN STORAGE DISEASE VII
gene_symbol: DBH
disease_id: ORPHA:230
disease_name: Dopamine beta-hydroxylase deficiency
DBH deficiency
gene_symbol: SCN4A
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: PGK1
disease_id: ORPHA:713
disease_name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
gene_symbol: SLC16A1
disease_id: OMIM:245340
disease_name: ERYTHROCYTE LACTATE TRANSPORTER DEFECT
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: TRAPPC11
disease_id: ORPHA:369847
disease_name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Phenotype: Generalized weakness of limb muscles (HP:0009028)
Associated genes and diseases:
gene_symbol: GMPPB
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: GFPT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: DPAGT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG2
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ALG14
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
Phenotype: Increased hematocrit (HP:0001899)
Associated genes and diseases:
gene_symbol: BPGM
disease_id: OMIM:222800
disease_name: ERYTHROCYTOSIS, FAMILIAL, 8
gene_symbol: SH2B3
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: EPOR
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: EPAS1
disease_id: OMIM:611783
disease_name: ERYTHROCYTOSIS, FAMILIAL, 4
gene_symbol: EPO
disease_id: OMIM:617907
disease_name: ERYTHROCYTOSIS, FAMILIAL, 5
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
gene_symbol: EGLN1
disease_id: OMIM:609820
disease_name: ERYTHROCYTOSIS, FAMILIAL, 3
gene_symbol: HBA2
disease_id: OMIM:617981
disease_name: ERYTHROCYTOSIS, FAMILIAL, 7
gene_symbol: HBA1
disease_id: OMIM:617981
disease_name: ERYTHROCYTOSIS, FAMILIAL, 7
gene_symbol: HBB
disease_id: OMIM:617980
disease_name: ERYTHROCYTOSIS, FAMILIAL, 6
Phenotype: Increased red blood cell mass (HP:0001898)
Associated genes and diseases:
gene_symbol: SH2B3
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: EPOR
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
gene_symbol: EGLN1
disease_id: OMIM:609820
disease_name: ERYTHROCYTOSIS, FAMILIAL, 3
Phenotype: Normocytic anemia (HP:0001897)
Associated genes and diseases:
gene_symbol: MTRR
disease_id: OMIM:236270
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: TREX1
disease_id: ORPHA:247691
disease_name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: TPI1
disease_id: OMIM:615512
disease_name: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: HK1
disease_id: OMIM:235700
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: EFL1
disease_id: OMIM:617941
disease_name: SHWACHMAN-DIAMOND SYNDROME 2
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: ALDOA
disease_id: OMIM:611881
disease_name: GLYCOGEN STORAGE DISEASE XII
gene_symbol: TET2
disease_id: ORPHA:98826
disease_name: Myelodysplastic neoplasm with low blasts
MDS-LB
Refractory anemia
gene_symbol: TET2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: TET2
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: ASXL1
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: SRSF2
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: RPS29
disease_id: OMIM:615909
disease_name: DIAMOND-BLACKFAN ANEMIA 13
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: 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: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
Phenotype: Spinal lipoma (HP:6000590)
Associated genes and diseases:
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: Amyotrophy of ankle musculature (HP:0009031)
Associated genes and diseases:
gene_symbol: KLHL9
disease_id: ORPHA:399081
disease_name: KLHL9-related early-onset distal myopathy
gene_symbol: HNRNPA1
disease_id: ORPHA:399086
disease_name: Finnish upper limb-onset distal myopathy
Distal myopathy type 3
MPD3
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
Phenotype: Elevated urinary succinylacetone level (HP:6000598)
Associated genes and diseases:
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated genes and diseases:
gene_symbol: ACADVL
disease_id: ORPHA:26793
disease_name: Very long chain acyl-CoA dehydrogenase deficiency
VLCAD deficiency
VLCADD
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
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: PYGM
disease_id: OMIM:232600
disease_name: GLYCOGEN STORAGE DISEASE V
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: 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: Quadriceps muscle atrophy (HP:0009050)
Associated genes and diseases:
gene_symbol: SMN1
disease_id: OMIM:271150
disease_name: SPINAL MUSCULAR ATROPHY, TYPE IV
gene_symbol: ADSS1
disease_id: ORPHA:482601
disease_name: Adenylosuccinate synthetase-like 1-related distal myopathy
ADSSL1-related distal myopathy
gene_symbol: ANO5
disease_id: OMIM:613319
disease_name: MIYOSHI MUSCULAR DYSTROPHY 3
gene_symbol: ANO5
disease_id: OMIM:611307
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
gene_symbol: ANO5
disease_id: ORPHA:206549
disease_name: Anoctamin-5-related limb-girdle muscular dystrophy R12
Anoctamin-5-related LGMD R12
Autosomal recessive limb-girdle muscular dystrophy type 2L
LGMD type 2L
LGMD2L
Limb-girdle muscular dystrophy type 2L
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: RYR1
disease_id: ORPHA:597
disease_name: Central core disease
gene_symbol: RYR1
disease_id: ORPHA:424107
disease_name: Congenital myopathy with myasthenic-like onset
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
Phenotype: Scapuloperoneal myopathy (HP:0009054)
Associated genes and diseases:
gene_symbol: FHL1
disease_id: OMIM:300695
disease_name: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
Phenotype: Loss of subcutaneous adipose tissue from upper limbs (HP:0009056)
Associated genes and diseases:
gene_symbol: LMNB2
disease_id: OMIM:608709
disease_name: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO