TaoMedAI/RareMedData huggingface dataset:
Gene: RUNX2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Cervical ribs (HP:0000891)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Multiple small vertebral fractures (HP:0005877)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Malar flattening (HP:0000272)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Coxa vara (HP:0002812)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Kyphosis (HP:0002808)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Parietal bossing (HP:0000242)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: High palate (HP:0000218)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Abnormal facility in opposing the shoulders (HP:0005259)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Short philtrum (HP:0000322)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Short face (HP:0011219)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX1
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Anaphylactic shock (HP:0100845)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Lymphoma (HP:0002665)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: RUNX1
Phenotype: Bone pain (HP:0002653)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Hypotension (HP:0002615)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Flushing (HP:0031284)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: RUNX1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Anorexia (HP:0002039)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Acute monocytic leukemia (HP:0004845)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: RUNX1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Urticaria (HP:0001025)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Abdominal cramps (HP:0032155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Fever (HP:0001945)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Leukemia (HP:0001909)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Anemia (HP:0001903)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Abnormal granulocyte morphology (HP:0001911)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Abnormal basophil morphology (HP:0001912)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Poor appetite (HP:0004396)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Elevated total serum tryptase (HP:0031901)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Purpura (HP:0000979)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Pruritus (HP:0000989)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Petechiae (HP:0000967)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Increased proportion of CD25+ mast cells (HP:0031408)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Ascites (HP:0001541)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Ecchymosis (HP:0031364)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Fatigue (HP:0012378)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Fatigue (HP:0012378)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Epistaxis (HP:0000421)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Weight loss (HP:0001824)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Abnormal dense granule content (HP:0012529)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Abnormal alpha granule content (HP:0012527)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Abnormal platelet shape (HP:0012524)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Gene: RUNX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: RUNX1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: RUNX1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBFB
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Coxa valga (HP:0002673)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Congenital onset (HP:0003577)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Broad thumb (HP:0011304)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Childhood onset (HP:0011463)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Young adult onset (HP:0011462)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Short clavicles (HP:0000894)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Osteopenia (HP:0000938)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Pointed chin (HP:0000307)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Pes planus (HP:0001763)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: CBFB
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CLEIDOCRANIAL DYSPLASIA 2 (OMIM:620099)
Gene: SERPINA6
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Gene: SERPINA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)