TaoMedAI/RareMedData huggingface dataset:
Gene: RIPPLY2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE (OMIM:616566)
Gene: RIPPLY2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE (OMIM:616566)
Gene: RIPPLY2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: RIPPLY2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIPPLY2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIPPLY2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CD109
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Melena (HP:0002249)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Blindness (HP:0000618)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Hematuria (HP:0000790)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Purpura (HP:0000979)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Petechiae (HP:0000967)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: CD109
Phenotype: Cephalohematoma (HP:0012541)
Associated disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Gene: TMEM270
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Phonophobia (HP:0002183)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Insomnia (HP:0100785)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TMEM270
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)