TaoMedAI/RareMedData huggingface dataset:
Gene: PNPT1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Abolished vibration sense (HP:0006944)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Facial tics (HP:0011468)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Facial tics (HP:0011468)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
Gene: PNPT1
Phenotype: Elevated CSF neopterin level (HP:0040204)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Hip contracture (HP:0003273)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Growth delay (HP:0001510)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Decreased mitochondrial complex III activity in liver tissue (HP:0006558)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
Gene: PNPT1
Phenotype: Abnormal cerebellar cortex morphology (HP:0031422)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Facial myokymia (HP:0000317)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Facial myokymia (HP:0000317)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Strabismus (HP:0000486)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
Gene: PNPT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Gene: PNPT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: PNPT1
Phenotype: Cataract (HP:0000518)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Gene: PNPT1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Gene: PNPT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Gene: RSPH1
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Gene: RSPH1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RSPH1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: WNT3A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: WNT3A
Phenotype: Bone pain (HP:0002653)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: WNT3A
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: WNT3A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: WNT3A
Phenotype: Kyphosis (HP:0002808)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: WNT3A
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: IJO; Idiopathic juvenile osteoporosis; Juvenile osteoporosis (ORPHA:85193)
Gene: HPS4
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Menorrhagia (HP:0000132)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Absent platelet dense granules (HP:0033263)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: HPS4
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: HERMANSKY-PUDLAK SYNDROME 4 (OMIM:614073)
Gene: SEC16B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
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: SEC16B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
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: SEC16B
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SEC16B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SEC16B
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)