TaoMedAI/RareMedData huggingface dataset:
Gene: LRRK2
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Gene: LRRK2
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: LRRK2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: LRRK2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SDR9C7
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Sepsis (HP:0100806)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Gangrene (HP:0100758)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Erythroderma (HP:0001019)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Dehydration (HP:0001944)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Ectropion (HP:0000656)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Short stature (HP:0004322)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Pruritus (HP:0000989)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Dry skin (HP:0000958)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Onychomycosis (HP:0012203)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Gene: SDR9C7
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Lamellar ichthyosis; LI (ORPHA:313)
Gene: SDR9C7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: SDR9C7
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: TPH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 (OMIM:613003)
Gene: TPH2
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Gene: TPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 (OMIM:613003)
Gene: TPH2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 (OMIM:613003)
Gene: TPH2
Phenotype: Depression (HP:0000716)
Associated disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Gene: TPH2
Phenotype: Depression (HP:0000716)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 (OMIM:613003)
Gene: SP7
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Motor delay (HP:0001270)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Narrow mouth (HP:0000160)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
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: SP7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
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: SP7
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Short stature (HP:0004322)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Gene: SP7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SP7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SP7
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Gene: SP7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SP7
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SP7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)