Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated genes and diseases:
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: FERMT3
disease_id: OMIM:612840
disease_name: LEUKOCYTE ADHESION DEFICIENCY, TYPE III
gene_symbol: ETHE1
disease_id: OMIM:602473
disease_name: ENCEPHALOPATHY, ETHYLMALONIC
gene_symbol: ETHE1
disease_id: ORPHA:51188
disease_name: Ethylmalonic encephalopathy
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: PLCG1
disease_id: OMIM:620514
disease_name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION
gene_symbol: OCLN
disease_id: OMIM:251290
disease_name: PSEUDO-TORCH SYNDROME 1
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: USP18
disease_id: OMIM:617397
disease_name: PSEUDO-TORCH SYNDROME 2
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: GIMAP5
disease_id: OMIM:619463
disease_name: PORTAL HYPERTENSION, NONCIRRHOTIC, 2
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: RAB27A
disease_id: ORPHA:79477
disease_name: Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith 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: 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: 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: COL3A1
disease_id: OMIM:618343
disease_name: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: PLOD1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TNXB
disease_id: ORPHA:230839
disease_name: Classical-like Ehlers-Danlos syndrome type 1
Classical-like EDS type 1
Ehlers-Danlos syndrome due to tenascin-X deficiency
clEDS type 1
gene_symbol: TNXB
disease_id: OMIM:606408
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE
gene_symbol: GNAS
disease_id: OMIM:219080
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
gene_symbol: GNAS
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: EFEMP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TCIRG1
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: CLCN7
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: SNX10
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: TNFSF11
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: F9
disease_id: OMIM:306900
disease_name: HEMOPHILIA B
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: COL1A2
disease_id: OMIM:617821
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
gene_symbol: COL1A2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A2
disease_id: OMIM:225320
disease_name: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
gene_symbol: COL1A2
disease_id: OMIM:619120
disease_name: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2
gene_symbol: GATA1
disease_id: OMIM:300367
disease_name: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
gene_symbol: GATA1
disease_id: OMIM:314050
disease_name: THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED
gene_symbol: FANCF
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCC
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: FANCE
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCE
disease_id: OMIM:600901
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP E
gene_symbol: FANCA
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCB
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: ETV6
disease_id: OMIM:616216
disease_name: THROMBOCYTOPENIA 5
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: FKBP14
disease_id: OMIM:614557
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
gene_symbol: FKBP14
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FKBP14
disease_id: ORPHA:300179
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
FKBP14-related EDS
FKBP22-deficient EDS
Kyphoscoliotic EDS due to FKBP22 deficiency
kEDS-FKBP14
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: RASGRP2
disease_id: OMIM:615888
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 18
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: LYST
disease_id: ORPHA:352723
disease_name: Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PRKAR1A
disease_id: OMIM:610489
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
gene_symbol: PRKAR1A
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
gene_symbol: NBEAL2
disease_id: ORPHA:721
disease_name: Gray platelet syndrome
Alpha storage pool deficiency
GPS
Platelet alpha-granule deficiency
gene_symbol: FBN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MFAP5
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: IPO8
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: THSD4
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: AEBP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SKI
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: LTBP3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EMILIN1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: EMILIN1
disease_id: OMIM:620080
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SLC2A10
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFBR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: BGN
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: BGN
disease_id: OMIM:300989
disease_name: MEESTER-LOEYS SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:231401
disease_name: Alpha-thalassemia-myelodysplastic syndrome
ATMDS
Acquired HbH disease
Acquired hemoglobin H disease
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: GP6
disease_id: OMIM:614201
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 11
gene_symbol: JAK2
disease_id: ORPHA:729
disease_name: Polycythemia vera
Acquired primary erythrocytosis
Osler-Vaquez disease
PV
Polycythemia rubra vera
Vaquez disease
gene_symbol: JAK2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
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: CREB3L1
disease_id: OMIM:616229
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVI
gene_symbol: CREB3L1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: F10
disease_id: ORPHA:328
disease_name: Congenital factor X deficiency
Congenital Stuart factor deficiency
Stuart-Prower factor deficiency
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
gene_symbol: F7
disease_id: ORPHA:327
disease_name: Congenital factor VII deficiency
Congenital proconvertin deficiency
Hypoproconvertinemia
gene_symbol: F7
disease_id: OMIM:227500
disease_name: FACTOR VII DEFICIENCY
gene_symbol: F5
disease_id: ORPHA:326
disease_name: Congenital factor V deficiency
Owren disease
Parahemophilia
Proaccelerin deficiency
gene_symbol: F5
disease_id: OMIM:227400
disease_name: FACTOR V DEFICIENCY
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL1A1
disease_id: OMIM:130060
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
gene_symbol: COL1A1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A1
disease_id: OMIM:619115
disease_name: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1
gene_symbol: COL1A1
disease_id: OMIM:166200
disease_name: OSTEOGENESIS IMPERFECTA, TYPE I
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: OMIM:130010
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: NFIX
disease_id: ORPHA:561
disease_name: Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
gene_symbol: ANKRD26
disease_id: OMIM:188000
disease_name: THROMBOCYTOPENIA 2
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: PLEC
disease_id: OMIM:131950
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
gene_symbol: PRDM5
disease_id: OMIM:614170
disease_name: BRITTLE CORNEA SYNDROME 2
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
gene_symbol: BMP1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINF1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: NBAS
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MESD
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MIA3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KIF5B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PHLDB1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT11
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SPARC
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC16B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P3H1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: ALPL
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HA1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: IFITM5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CCDC134
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CRTAP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLS3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GAT3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B4GALT7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TENT5A
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: GORAB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TAPT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SGMS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FKBP10
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COPB2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SP7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: AMBN
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LIFR
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: DSPP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TMEM38B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: MBTPS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CHST3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LRP5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PPIB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLAU
disease_id: OMIM:601709
disease_name: QUEBEC PLATELET DISORDER
gene_symbol: SLFN14
disease_id: OMIM:616913
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 20
gene_symbol: AIP
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: FLNA
disease_id: ORPHA:75497
disease_name: X-linked Ehlers-Danlos syndrome
EDS V
Ehlers-Danlos syndrome type 5
X-linked EDS
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: VWF
disease_id: OMIM:613554
disease_name: VON WILLEBRAND DISEASE, TYPE 2
gene_symbol: VWF
disease_id: OMIM:277480
disease_name: VON WILLEBRAND DISEASE, TYPE 3
gene_symbol: C1S
disease_id: OMIM:617174
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
gene_symbol: PRKACA
disease_id: OMIM:615830
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: THBS2
disease_id: OMIM:620865
disease_name: OMIM:620865
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WAS
disease_id: OMIM:313900
disease_name: THROMBOCYTOPENIA 1
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: P2RY12
disease_id: OMIM:609821
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 8
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SERPINF2
disease_id: ORPHA:79
disease_name: Congenital alpha2-antiplasmin deficiency
gene_symbol: SERPINF2
disease_id: OMIM:262850
disease_name: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
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: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: HPS3
disease_id: OMIM:614072
disease_name: HERMANSKY-PUDLAK SYNDROME 3
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
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: SLC51A
disease_id: OMIM:619484
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: STIM1
disease_id: OMIM:185070
disease_name: STORMORKEN SYNDROME
gene_symbol: ARMC5
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: KDM1A
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: GNE
disease_id: OMIM:620757
disease_name: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
gene_symbol: ZNF469
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: TBXA2R
disease_id: OMIM:614009
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
gene_symbol: F2
disease_id: OMIM:613679
disease_name: PROTHROMBIN DEFICIENCY, CONGENITAL
gene_symbol: GATA2
disease_id: ORPHA:228423
disease_name: GATA2 deficiency spectrum
GATA binding protein 2 deficiency spectrum
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: PTPRJ
disease_id: OMIM:620484
disease_name: THROMBOCYTOPENIA 10
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: STAT3
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: PML
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: RARA
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: IRF2BP2
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: FIP1L1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NPM1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: BCOR
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NABP1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: STAT5B
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NUMA1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: ZBTB16
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: TBL1XR1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: SLC39A13
disease_id: ORPHA:157965
disease_name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
spEDS-SLC39A13
gene_symbol: SLC39A13
disease_id: OMIM:612350
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
gene_symbol: SH2B3
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: CALR
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: MPL
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TET2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: MYH11
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ACTA2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PRKG1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FOXE3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAT2A
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HEY2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MYLK
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ELN
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
gene_symbol: C4A
disease_id: OMIM:614380
disease_name: COMPLEMENT COMPONENT 4A DEFICIENCY
gene_symbol: CD81
disease_id: OMIM:613496
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 6
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: TFR2
disease_id: OMIM:604250
disease_name: HEMOCHROMATOSIS, TYPE 3
gene_symbol: PROC
disease_id: ORPHA:745
disease_name: Severe hereditary thrombophilia due to congenital protein C deficiency
Autosomal recessive thrombophilia due to PC deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: MVK
disease_id: ORPHA:343
disease_name: Hyperimmunoglobulinemia D with periodic fever
HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
gene_symbol: TREX1
disease_id: OMIM:225750
disease_name: AICARDI-GOUTIERES SYNDROME 1
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: GNA14
disease_id: ORPHA:2122
disease_name: Kaposiform hemangioendothelioma
gene_symbol: GNA14
disease_id: ORPHA:1063
disease_name: Tufted angioma
Nakagawa angioblastoma
gene_symbol: ITGA2
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: CD109
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: FYB1
disease_id: OMIM:273900
disease_name: THROMBOCYTOPENIA 3
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ORAI1
disease_id: ORPHA:3204
disease_name: Stormorken-Sjaastad-Langslet syndrome
Stormorken syndrome
Thrombocytopathy-asplenia-miosis syndrome
gene_symbol: C2
disease_id: OMIM:217000
disease_name: COMPLEMENT COMPONENT 2 DEFICIENCY
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: NLRP3
disease_id: ORPHA:1451
disease_name: CINCA syndrome
Chronic infantile neurological cutaneous and articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: HOXA11
disease_id: OMIM:605432
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
gene_symbol: CFHR3
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFH
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFHR1
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: HCK
disease_id: OMIM:620296
disease_name: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS
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: 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: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
gene_symbol: F8
disease_id: ORPHA:169805
disease_name: Moderate hemophilia A
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
gene_symbol: CHST14
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: PTEN
disease_id: ORPHA:109
disease_name: Bannayan-Riley-Ruvalcaba syndrome
BRRS
Myhre-Riley-Smith syndrome
gene_symbol: PROS1
disease_id: ORPHA:743
disease_name: Severe hereditary thrombophilia due to congenital protein S deficiency
Autosomal recessive thrombophilia due to congenital protein S deficiency
gene_symbol: GNA11
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ARL6IP6
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: COG8
disease_id: ORPHA:95428
disease_name: COG8-CDG
CDG syndrome type IIh
CDG-IIh
CDG2H
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
gene_symbol: PRKACG
disease_id: OMIM:616176
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 19
gene_symbol: IFNG
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TERC
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: SBDS
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TERT
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure