TaoMedAI/RareMedData huggingface dataset:
Gene: IFT81
Phenotype: Micromelia (HP:0002983)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Proptosis (HP:0000520)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Gene: IFT81
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT81
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT81
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IFT81
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Areflexia (HP:0001284)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Areflexia (HP:0001284)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Seizure (HP:0001250)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Ataxia (HP:0001251)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Ataxia (HP:0001251)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Achalasia (HP:0002571)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Abnormal spinal cord morphology (HP:0002143)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Ring scotoma (HP:0030529)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Blindness (HP:0000618)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Abnormal peripheral nerve morphology by anatomical site (HP:0045010)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Abnormal sensory nerve conduction velocity (HP:0040132)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Kyphosis (HP:0002808)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Truncal titubation (HP:0030147)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Cataract (HP:0000518)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Cataract (HP:0000518)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Visual loss (HP:0000572)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Chronic pain (HP:0012532)
Associated disease: PCARP; Autosomal recessive posterior column ataxia and retinitis pigmentosa; Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Gene: FLVCR1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Gene: FLVCR1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FLVCR1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MCTS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: BCGitis (HP:0020086)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: BCGosis (HP:0020087)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: MCTS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 118 (OMIM:301115)
Gene: C1GALT1C1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: TN POLYAGGLUTINATION SYNDROME (OMIM:300622)
Gene: C1GALT1C1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Short long bone (HP:0003026)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Retrognathia (HP:0000278)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: High forehead (HP:0000348)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Short philtrum (HP:0000322)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: TN POLYAGGLUTINATION SYNDROME (OMIM:300622)
Gene: C1GALT1C1
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Moderate proteinuria (HP:0012596)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: TN POLYAGGLUTINATION SYNDROME (OMIM:300622)
Gene: C1GALT1C1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: C1GALT1C1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE (OMIM:301110)
Gene: SETD2
Phenotype: Excessive shyness (HP:0100962)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Seizure (HP:0001250)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Seizure (HP:0001250)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)