TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
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: Elevated plasma pyrophosphate (HP:0011864)
Associated genes and diseases:
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: ALPL
disease_id: OMIM:241510
disease_name: HYPOPHOSPHATASIA, CHILDHOOD
Phenotype: Reduced tissue fatty aldehyde dehydrogenase activity (HP:6000720)
Associated genes and diseases:
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
Phenotype: Reduced tissue guanidinoacetate methyltransferase activity (HP:6000722)
Associated genes and diseases:
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
Phenotype: Reduced erythrocyte galactokinase activity (HP:6000723)
Associated genes and diseases:
gene_symbol: GALK1
disease_id: OMIM:230200
disease_name: GALACTOSEMIA II
Phenotype: Salty tasting skin (HP:6000725)
Associated genes and diseases:
gene_symbol: CFTR
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: FCGR2A
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: TGFB1
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated genes and diseases:
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: ITGB3
disease_id: OMIM:619271
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 24
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: TBXA2R
disease_id: OMIM:614009
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated genes and diseases:
gene_symbol: GP9
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BA
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP1BA
disease_id: OMIM:153670
disease_name: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: ITGB3
disease_id: OMIM:619271
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 24
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: GP6
disease_id: OMIM:614201
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 11
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
Phenotype: Impaired thrombin-induced platelet aggregation (HP:0011872)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
Phenotype: Abnormal platelet membrane protein expression (HP:0011878)
Associated genes and diseases:
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
Phenotype: Decreased platelet glycoprotein Ib-IX-V (HP:0011879)
Associated genes and diseases:
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
Phenotype: Abnormal platelet granules (HP:0011883)
Associated genes and diseases:
gene_symbol: SLC35A1
disease_id: ORPHA:238459
disease_name: SLC35A1-CDG
CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
gene_symbol: VPS33B
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: VIPAS39
disease_id: ORPHA:2697
disease_name: Arthrogryposis-renal dysfunction-cholestasis syndrome
ARC syndrome
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
gene_symbol: HPS3
disease_id: OMIM:614072
disease_name: HERMANSKY-PUDLAK SYNDROME 3
gene_symbol: HPS4
disease_id: OMIM:614073
disease_name: HERMANSKY-PUDLAK SYNDROME 4
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: GATA1
disease_id: OMIM:314050
disease_name: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
Phenotype: Abnormal umbilical stump bleeding (HP:0011884)
Associated genes and diseases:
gene_symbol: SERPINF2
disease_id: ORPHA:79
disease_name: Congenital alpha2-antiplasmin deficiency
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: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: F10
disease_id: ORPHA:328
disease_name: Congenital factor X deficiency
Congenital Stuart factor deficiency
Stuart-Prower factor deficiency
gene_symbol: F2
disease_id: ORPHA:325
disease_name: Congenital factor II deficiency
Dysprothrombinemia
Hypoprothrombinemia
Prothrombin deficiency
Phenotype: Hyphema (HP:0011886)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:232
disease_name: Sickle cell anemia
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
Phenotype: Choroid hemorrhage (HP:0011887)
Associated genes and diseases:
gene_symbol: RANBP2
disease_id: ORPHA:88619
disease_name: Familial acute necrotizing encephalopathy
ADANE
Recurrent acute necrotizing encephalopathy
Phenotype: Bleeding requiring red cell transfusion (HP:0011888)
Associated genes and diseases:
gene_symbol: SLC51A
disease_id: OMIM:619484
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6
Phenotype: Bleeding with minor or no trauma (HP:0011889)
Associated genes and diseases:
gene_symbol: F8
disease_id: ORPHA:169805
disease_name: Moderate hemophilia A
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
gene_symbol: KRT1
disease_id: ORPHA:79503
disease_name: Ichthyosis hystrix of Curth-Macklin
Ichthyosis hystrix, Curth-Macklin type
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13A1
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
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: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
Phenotype: Premature glabellar skin wrinkling (HP:6000744)
Associated genes and diseases:
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
Phenotype: Flexural reticulate hyperpigmentation (HP:6000745)
Associated genes and diseases:
gene_symbol: RBM28
disease_id: OMIM:612079
disease_name: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
Phenotype: Elevated fractional excretion of urate (HP:6000746)
Associated genes and diseases:
gene_symbol: SLC22A12
disease_id: OMIM:220150
disease_name: HYPOURICEMIA, RENAL, 1
Phenotype: Decreased urinary creatine level (HP:6000748)
Associated genes and diseases:
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
gene_symbol: GATM
disease_id: OMIM:612718
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
Phenotype: Elevated circulating type I procollagen aminoterminal propeptide concentration (HP:6000749)
Associated genes and diseases:
gene_symbol: SOST
disease_id: OMIM:239100
disease_name: VAN BUCHEM DISEASE
Phenotype: Post-partum hemorrhage (HP:0011891)
Associated genes and diseases:
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13A1
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: KIF23
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: RACGAP1
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: DIAPH1
disease_id: OMIM:124900
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
gene_symbol: F8
disease_id: ORPHA:177926
disease_name: Bleeding disorder in hemophilia A carriers
gene_symbol: F10
disease_id: ORPHA:328
disease_name: Congenital factor X deficiency
Congenital Stuart factor deficiency
Stuart-Prower factor deficiency
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: F2
disease_id: ORPHA:325
disease_name: Congenital factor II deficiency
Dysprothrombinemia
Hypoprothrombinemia
Prothrombin deficiency
gene_symbol: F7
disease_id: ORPHA:327
disease_name: Congenital factor VII deficiency
Congenital proconvertin deficiency
Hypoproconvertinemia
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: F5
disease_id: ORPHA:326
disease_name: Congenital factor V deficiency
Owren disease
Parahemophilia
Proaccelerin deficiency
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated genes and diseases:
gene_symbol: TJP2
disease_id: OMIM:607748
disease_name: HYPERCHOLANEMIA, FAMILIAL 1
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
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: 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
Phenotype: Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894)
Associated genes and diseases:
gene_symbol: TBXA2R
disease_id: OMIM:614009
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
Phenotype: Subconjunctival hemorrhage (HP:0011896)
Associated genes and diseases:
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
Phenotype: Hyperfibrinogenemia (HP:0011899)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: MEFV
disease_id: ORPHA:342
disease_name: Familial Mediterranean fever
Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease
gene_symbol: ITGB2
disease_id: OMIM:116920
disease_name: LEUKOCYTE ADHESION DEFICIENCY, TYPE I
Phenotype: Decreased tissue S-adenosylhomocysteine hydrolase activity (HP:6000750)
Associated genes and diseases:
gene_symbol: AHCY
disease_id: OMIM:613752
disease_name: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Phenotype: Decreased urinary dopamine level (HP:6000751)
Associated genes and diseases:
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
Phenotype: Elevated erythrocyte AICA-ribotide concentration (HP:6000752)
Associated genes and diseases:
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
Phenotype: Elevated circulating monomethyl sterol concentration (HP:6000753)
Associated genes and diseases:
gene_symbol: MSMO1
disease_id: OMIM:616834
disease_name: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Phenotype: Elevated circulating dimethyl sterol concentration (HP:6000754)
Associated genes and diseases:
gene_symbol: MSMO1
disease_id: OMIM:616834
disease_name: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Phenotype: Elevated urinary 5-hydroxyindoleacetic acid level (HP:6000756)
Associated genes and diseases:
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
Phenotype: Elevated circulating thiosulfate concentration (HP:6000757)
Associated genes and diseases:
gene_symbol: ETHE1
disease_id: OMIM:602473
disease_name: ENCEPHALOPATHY, ETHYLMALONIC
Phenotype: Elevated urinary 4-tyramine level (HP:6000775)
Associated genes and diseases:
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
Phenotype: Elevated circulating 3-hydroxykynurenine concentration (HP:6000776)
Associated genes and diseases:
gene_symbol: KYNU
disease_id: OMIM:617661
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
Phenotype: Reduced tissue phosphomannomutase activity (HP:6000781)
Associated genes and diseases:
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
Phenotype: Reduced tissue phosphomannose isomerase activity (HP:6000782)
Associated genes and diseases:
gene_symbol: MPI
disease_id: OMIM:602579
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
Phenotype: Reduced tissue palmitoyl-protein thioesterase activity (HP:6000783)
Associated genes and diseases:
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
Phenotype: Protein craving (HP:6000785)
Associated genes and diseases:
gene_symbol: SLC25A13
disease_id: OMIM:603471
disease_name: CITRULLINEMIA, TYPE II, ADULT-ONSET
Phenotype: Basilar artery fenestration (HP:6000787)
Associated genes and diseases:
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Short proximal phalanx of the 5th finger (HP:0009226)
Associated genes and diseases:
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
Phenotype: Symphalangism affecting the proximal phalanx of the 5th finger (HP:0009232)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: NOG
disease_id: OMIM:184460
disease_name: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: GDF5
disease_id: OMIM:615298
disease_name: SYMPHALANGISM, PROXIMAL, 1B
gene_symbol: BHLHA9
disease_id: OMIM:609432
disease_name: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
Phenotype: Aplasia of the 5th finger (HP:0009238)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:186100
disease_name: SYNDACTYLY, TYPE III
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
Phenotype: Aplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: SMARCB1
disease_id: OMIM:614608
disease_name: COFFIN-SIRIS SYNDROME 3
Phenotype: Aplasia/Hypoplasia of the 4th finger (HP:0009272)
Associated genes and diseases:
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: GDF5
disease_id: OMIM:615072
disease_name: BRACHYDACTYLY, TYPE A1, C
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2