TaoMedAI/RareMedData huggingface dataset:
Gene: RARA
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARA
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: RARB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Neonatal death (HP:0003811)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Retrognathia (HP:0000278)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Hypoplastic left atrium (HP:0005156)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARB
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
Gene: RARS1
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Poor head control (HP:0002421)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Poor head control (HP:0002421)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Dystonia (HP:0001332)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Dysmetria (HP:0001310)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Vomiting (HP:0002013)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Intention tremor (HP:0002080)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Absent smooth pursuit (HP:0007179)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Absent smooth pursuit (HP:0007179)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RARS1
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
Gene: RARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: RARS-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:438114)
Gene: RASA1
Phenotype: Capillary malformation (HP:0025104)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Capillary malformation (HP:0025104)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 (OMIM:608354)
Gene: RASA1
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Hemangiomatosis (HP:0007461)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Gene: RASA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 (OMIM:608354)
Gene: RASA1
Phenotype: Varicose veins (HP:0002619)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Abnormal circulating B-type natriuretic peptide concentration (HP:0031138)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Muscle hypertrophy of the lower extremities (HP:0008968)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Bounding pulse (HP:0032555)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Hemihypertrophy of lower limb (HP:0100553)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Hypertrophy of the upper limb (HP:0010484)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Back pain (HP:0003418)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Myelopathy (HP:0002196)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Abnormal lymphatic vessel morphology (HP:0100766)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Chest pain (HP:0100749)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Spinal arteriovenous malformation (HP:0002390)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Headache (HP:0002315)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Vascular tortuosity (HP:0004948)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Arteriovenous fistula (HP:0004947)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Arteriovenous fistula (HP:0004947)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 (OMIM:608354)
Gene: RASA1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Conus terminalis arteriovenous malformation (HP:0031939)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Venous malformation (HP:0012721)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 (OMIM:608354)
Gene: RASA1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Neck pain (HP:0030833)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Scaling skin (HP:0040189)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Abnormal femoral metaphysis morphology (HP:0006489)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 (OMIM:608354)
Gene: RASA1
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA1
Phenotype: Pain (HP:0012531)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: Parkes Weber syndrome (ORPHA:90307)
Gene: RASA2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RASA2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RASA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)