TaoMedAI/RareMedData huggingface dataset:
Gene: CDC73
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PARATHYROID CARCINOMA (OMIM:608266)
Gene: CDC73
Phenotype: Renal cyst (HP:0000107)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Renal cyst (HP:0000107)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Constipation (HP:0002019)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Constipation (HP:0002019)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Dysphagia (HP:0002015)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Dysphagia (HP:0002015)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Abnormal parathyroid morphology (HP:0011766)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Abnormal parathyroid morphology (HP:0011766)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Hamartoma (HP:0010566)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: HYPERPARATHYROIDISM 1 (OMIM:145000)
Gene: CDC73
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Fibroma (HP:0010614)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Fibroma (HP:0010614)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Headache (HP:0002315)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Headache (HP:0002315)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Mandibular pain (HP:0200025)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Mandibular pain (HP:0200025)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Polydipsia (HP:0001959)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Polydipsia (HP:0001959)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPERPARATHYROIDISM 1 (OMIM:145000)
Gene: CDC73
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: PARATHYROID CARCINOMA (OMIM:608266)
Gene: CDC73
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Abdominal symptom (HP:0011458)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: PARATHYROID CARCINOMA (OMIM:608266)
Gene: CDC73
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Osteopenia (HP:0000938)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: CDC73
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Fatigue (HP:0012378)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Fatigue (HP:0012378)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Pancreatitis (HP:0001733)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Renal cortical adenoma (HP:0006735)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: HPT-JT; Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
Gene: CDC73
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: PARATHYROID CARCINOMA (OMIM:608266)
Gene: CDC73
Phenotype: Hurthle cell thyroid adenoma (HP:0006781)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Gene: CDC73
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC73
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Weight loss (HP:0001824)
Associated disease: Parathyroid carcinoma (ORPHA:143)
Gene: CDC73
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC73
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC52A2
Phenotype: Split hand (HP:0001171)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Areflexia (HP:0001284)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Hypotonia (HP:0001252)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Ataxia (HP:0001251)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Facial palsy (HP:0010628)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Progressive (HP:0003676)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Clumsiness (HP:0002312)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Organic aciduria (HP:0001992)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: SLC52A2
Phenotype: Visual loss (HP:0000572)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Gene: TMEM231
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM231
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM231
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM231
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM231
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM231
Phenotype: Syndactyly (HP:0001159)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM231
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM231
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM231
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)