TaoMedAI/RareMedData huggingface dataset:
Gene: CBL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Fatigue (HP:0012378)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Overfolded helix (HP:0000396)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Thickened helices (HP:0000391)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Low-set ears (HP:0000369)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Long philtrum (HP:0000343)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Broad forehead (HP:0000337)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: High forehead (HP:0000348)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Micrognathia (HP:0000347)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Triangular face (HP:0000325)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Triangular face (HP:0000325)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Macrotia (HP:0000400)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Strabismus (HP:0000486)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Short neck (HP:0000470)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Webbed neck (HP:0000465)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Webbed neck (HP:0000465)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Proptosis (HP:0000520)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Weight loss (HP:0001824)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Ptosis (HP:0000508)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Ptosis (HP:0000508)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Gene: CBL
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: CBL
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CBL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CBL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CBL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBL
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: CBLB
Phenotype: Partial absence of specific antibody response to tetanus vaccine (HP:0410297)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Increased circulating interleukin 10 concentration (HP:0033199)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Vitiligo (HP:0001045)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Urticaria (HP:0001025)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Hepatic hemophagocytosis (HP:0034797)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: CBLB
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 (OMIM:620430)
Gene: SERPINH1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: PRETERM PREMATURE RUPTURE OF THE MEMBRANES (OMIM:610504)
Gene: SERPINH1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Death in childhood (HP:0003819)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Fibular bowing (HP:0010502)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Gene: SERPINH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SERPINH1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SERPINH1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SERPINH1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SERPINH1
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)