TaoMedAI/RareMedData huggingface dataset:
Gene: SMO
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Short ribs (HP:0000773)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Sleep terror (HP:0030765)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Short nose (HP:0003196)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Lip pit (HP:0100267)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Hip dislocation (HP:0002827)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Microcephaly (HP:0000252)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Death in infancy (HP:0001522)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Micrognathia (HP:0000347)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Micromelia (HP:0002983)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: 2-3 finger osseus syndactyly (HP:0025770)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SMO
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: PALLISTER-HALL-LIKE SYNDROME (OMIM:241800)
Gene: SMO
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: SMO
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMO
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CURRY-JONES SYNDROME (OMIM:601707)
Gene: SMO
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Corpus callosum agenesis-polysyndactyly syndrome; Curry-Jones syndrome (ORPHA:1553)
Gene: SMPD1
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Ataxia (HP:0001251)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Spasticity (HP:0001257)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Constipation (HP:0002019)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Vomiting (HP:0002013)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Dyspnea (HP:0002094)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Rigidity (HP:0002063)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Apraxia (HP:0002186)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Middle age onset (HP:0003596)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Diffuse reticular or finely nodular infiltrations (HP:0002207)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Diffuse reticular or finely nodular infiltrations (HP:0002207)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Acute promyelocytic leukemia (HP:0004836)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Athetosis (HP:0002305)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Foam cells with lamellar inclusion bodies (HP:0003609)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Foam cells with lamellar inclusion bodies (HP:0003609)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Anemia (HP:0001903)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Short stature (HP:0004322)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Short stature (HP:0004322)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Short stature (HP:0004322)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Irritability (HP:0000737)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Depression (HP:0000716)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Decreased acid sphingomyelinase activity (HP:0034300)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Arthralgia (HP:0002829)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Ascites (HP:0001541)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Abnormal blood gas level (HP:0012415)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Gene: SMPD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)
Gene: SMPD1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Gene: SMPD1
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Chronic visceral ASMD; Niemann-Pick disease type B; Chronic visceral acid sphingomyelinase deficiency; NPD-B (ORPHA:77293)