TaoMedAI/RareMedData huggingface dataset:
Gene: XRCC4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Long nose (HP:0003189)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Insulin resistance (HP:0000855)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Sparse hair (HP:0008070)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Long face (HP:0000276)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Growth delay (HP:0001510)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Congenital blindness (HP:0007875)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: High forehead (HP:0000348)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Micrognathia (HP:0000347)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Bird-like facies (HP:0000320)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Short chin (HP:0000331)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Triangular face (HP:0000325)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Pes cavus (HP:0001761)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Cataract (HP:0000518)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Telecanthus (HP:0000506)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: YY1
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Simple ear (HP:0020206)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Long fingers (HP:0100807)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Motor delay (HP:0001270)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Lethargy (HP:0001254)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Seizure (HP:0001250)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Coma (HP:0001259)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Waddling gait (HP:0002515)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Waddling gait (HP:0002515)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Reactive hypoglycemia (HP:0012051)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Dystonia (HP:0001332)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Dystonia (HP:0001332)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Absent speech (HP:0001344)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Tremor (HP:0001337)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Tremor (HP:0001337)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Tremor (HP:0001337)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Esophageal atresia (HP:0002032)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Gliosis (HP:0002171)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Fasting hyperinsulinemia (HP:0008283)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Congenital onset (HP:0003577)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Insomnia (HP:0100785)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Abnormality of pain sensation (HP:0010832)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Neuroendocrine neoplasm (HP:0100634)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Neoplasm of the adrenal gland (HP:0100631)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Palpitations (HP:0001962)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Abnormality of upper lip vermillion (HP:0011339)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Sydney crease (HP:0011311)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Increased body weight (HP:0004324)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Insulinoma (ORPHA:97279)
Gene: YY1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Anxiety (HP:0000739)
Associated disease: YY1 haploinsufficiency syndrome; Gabriele-de Vries syndrome (ORPHA:506358)
Gene: YY1
Phenotype: Anxiety (HP:0000739)
Associated disease: GABRIELE-DE VRIES SYNDROME (OMIM:617557)
Gene: YY1
Phenotype: Anxiety (HP:0000739)
Associated disease: Insulinoma (ORPHA:97279)