TaoMedAI/RareMedData huggingface dataset:
Gene: ASXL1
Phenotype: Cleft lip (HP:0410030)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Flushing (HP:0031284)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Flushing (HP:0031284)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Hyperechogenic pancreas (HP:0006276)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: ASXL1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Nausea (HP:0002018)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Myalgia (HP:0003326)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Vomiting (HP:0002013)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Anorexia (HP:0002039)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Apnea (HP:0002104)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Abnormal mast cell morphology (HP:0100494)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Hirsutism (HP:0001007)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Urticaria (HP:0001025)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Urticaria (HP:0001025)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Headache (HP:0002315)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Abdominal cramps (HP:0032155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Naevus flammeus of the eyelid (HP:0010733)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Increased total basophil count (HP:0031807)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Fever (HP:0001945)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Leukemia (HP:0001909)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Anemia (HP:0001903)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Synophrys (HP:0000664)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Short stature (HP:0004322)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Short stature (HP:0004322)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Elevated total serum tryptase (HP:0031901)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Elevated total serum tryptase (HP:0031901)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Delayed peripheral myelination (HP:0011401)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Prominent palatine ridges (HP:0010291)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Pallor (HP:0000980)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Pruritus (HP:0000989)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Pruritus (HP:0000989)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Increased proportion of CD25+ mast cells (HP:0031408)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Long face (HP:0000276)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Congenital contracture (HP:0002803)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Ascites (HP:0001541)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: ASXL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Fatigue (HP:0012378)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Fatigue (HP:0012378)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: High myopia (HP:0011003)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Myeloid leukemia (HP:0012324)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Chronic myelomonocytic leukemia (HP:0012325)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)