TaoMedAI/RareMedData huggingface dataset:
Gene: POC1A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHG4
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Areflexia (HP:0001284)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Ataxia (HP:0001251)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Motor deterioration (HP:0002333)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: PLEKHG4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SCA4; Spinocerebellar ataxia type 4 (ORPHA:98765)
Gene: DPCD
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPCD
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPCD
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POT1
Phenotype: Retinal exudate (HP:0001147)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Inability to walk (HP:0002540)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Clubbing (HP:0001217)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
Gene: POT1
Phenotype: Death in childhood (HP:0003819)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Absent speech (HP:0001344)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
Gene: POT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Nonproductive cough (HP:0031246)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Middle age onset (HP:0003596)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Adult onset (HP:0003581)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
Gene: POT1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Cholecystitis (HP:0001082)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Inspiratory crackles (HP:0031996)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
Gene: POT1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Short telomere length (HP:0031413)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Melanoma (HP:0002861)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
Gene: POT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Gene: POT1
Phenotype: Gastric varix (HP:0030169)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: POT1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: POT1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Gene: RTTN
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Poor speech (HP:0002465)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Poor speech (HP:0002465)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Thin ear helix (HP:0009905)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Dysarthria (HP:0001260)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Dysarthria (HP:0001260)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Spasticity (HP:0001257)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Hypospadias (HP:0000047)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Lissencephaly (HP:0001339)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
Gene: RTTN
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)
Gene: RTTN
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (ORPHA:468631)