TaoMedAI/RareMedData huggingface dataset:
Gene: VCAN
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Visual field defect (HP:0001123)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Motor delay (HP:0001270)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Wide tufts of distal phalanges (HP:0006095)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Lens luxation (HP:0012019)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Coxa valga (HP:0002673)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Rhizomelia (HP:0008905)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Cleft palate (HP:0000175)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Cleft palate (HP:0000175)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Cleft palate (HP:0000175)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Peripheral tractional retinal detachment (HP:0007643)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Respiratory distress (HP:0002098)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Abnormal cartilage collagen (HP:0008271)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Splayed epiphyses (HP:0200003)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Macrodontia of permanent maxillary central incisor (HP:0000675)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Short stature (HP:0004322)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Optically empty vitreous (HP:0030663)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Enlarged joints (HP:0003037)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Short nose (HP:0003196)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Clinodactyly of the 4th finger (HP:0040025)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: VCAN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: VCAN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VCAN
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: VCAN
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: VCAN
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: SLC25A10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Hypospadias (HP:0000047)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Tetraparesis (HP:0002273)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: SLC25A10
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 (OMIM:618972)
Gene: CST3
Phenotype: Stroke (HP:0001297)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Gene: CST3
Phenotype: Stroke (HP:0001297)
Associated disease: ACys amyloidosis; CST3-related amyloidosis; Hereditary cystatin C amyloid angiopathy; Cystatin amyloidosis; HCHWA, Icelandic type; Hereditary cerebral hemorrhage with amyloidosis, Icelandic type (ORPHA:100008)
Gene: CST3
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 11 (OMIM:611953)
Gene: CST3
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Gene: CST3
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: ACys amyloidosis; CST3-related amyloidosis; Hereditary cystatin C amyloid angiopathy; Cystatin amyloidosis; HCHWA, Icelandic type; Hereditary cerebral hemorrhage with amyloidosis, Icelandic type (ORPHA:100008)
Gene: CST3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Gene: CST3
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Gene: CST3
Phenotype: Cerebral amyloid angiopathy (HP:0011970)
Associated disease: ACys amyloidosis; CST3-related amyloidosis; Hereditary cystatin C amyloid angiopathy; Cystatin amyloidosis; HCHWA, Icelandic type; Hereditary cerebral hemorrhage with amyloidosis, Icelandic type (ORPHA:100008)
Gene: CST3
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: ACys amyloidosis; CST3-related amyloidosis; Hereditary cystatin C amyloid angiopathy; Cystatin amyloidosis; HCHWA, Icelandic type; Hereditary cerebral hemorrhage with amyloidosis, Icelandic type (ORPHA:100008)
Gene: CST3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 11 (OMIM:611953)
Gene: CST3
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Gene: CST3
Phenotype: Generalized amyloid deposition (HP:0003216)
Associated disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Gene: CST3
Phenotype: Amyloidosis (HP:0011034)
Associated disease: ACys amyloidosis; CST3-related amyloidosis; Hereditary cystatin C amyloid angiopathy; Cystatin amyloidosis; HCHWA, Icelandic type; Hereditary cerebral hemorrhage with amyloidosis, Icelandic type (ORPHA:100008)
Gene: CST6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Photophobia (HP:0000613)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Pruritus (HP:0000989)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CST6
Phenotype: Blepharitis (HP:0000498)
Associated disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Gene: CSTA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Excessive wrinkling of palmar skin (HP:0007605)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Lichenification (HP:0100725)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Papule (HP:0200034)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Skin erosion (HP:0200041)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Erythema (HP:0010783)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Macule (HP:0012733)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Ichthyosis (HP:0008064)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Scaling skin (HP:0040189)
Associated disease: PEELING SKIN SYNDROME 4 (OMIM:607936)
Gene: CSTA
Phenotype: Scaling skin (HP:0040189)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTA
Phenotype: Allergy (HP:0012393)
Associated disease: Acral PSS; Peeling skin syndrome 2; PSS 2; Acral peeling skin syndrome; Localized PSS (ORPHA:263534)
Gene: CSTB
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)