TaoMedAI/RareMedData huggingface dataset:
Gene: CDKN1B
Phenotype: Thymoma (HP:0100522)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Anorexia (HP:0002039)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary thyrotropic cell adenoma (HP:0011762)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary gonadotropic cell adenoma (HP:0011759)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Pituitary null cell adenoma (HP:0011761)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary null cell adenoma (HP:0011761)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Adrenocortical adenoma (HP:0008256)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Parathyroid hyperplasia (HP:0008208)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary corticotropic cell adenoma (HP:0008291)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Fasting hyperinsulinemia (HP:0008283)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Melena (HP:0002249)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Hematemesis (HP:0002248)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Decreased vigilance (HP:0032044)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Angiofibromas (HP:0010615)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Angiofibromas (HP:0010615)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Headache (HP:0002315)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Esophagitis (HP:0100633)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Neuroendocrine neoplasm (HP:0100634)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Erythema (HP:0010783)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Dehydration (HP:0001944)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Large cafe-au-lait macules with irregular margins (HP:0005605)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Increased glucagon level (HP:0030688)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Impotence (HP:0000802)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Short attention span (HP:0000736)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Depression (HP:0000716)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Carcinoma (HP:0030731)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Goiter (HP:0000853)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Adrenocortical abnormality (HP:0000849)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Hypertension (HP:0000822)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Cervix cancer (HP:0030079)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Ependymoma (HP:0002888)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Meningioma (HP:0002858)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Extrahepatic cholestasis (HP:0012334)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Glucagonoma (HP:0030404)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Intestinal carcinoid (HP:0006723)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Gene: CDKN1B
Phenotype: Renal angiomyolipoma (HP:0006772)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1B
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: MEN4; Multiple endocrine neoplasia type 4 (ORPHA:276152)
Gene: CDKN1B
Phenotype: Weight loss (HP:0001824)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: CDKN1C
Phenotype: Syndactyly (HP:0001159)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Motor delay (HP:0001270)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (ORPHA:436144)
Gene: CDKN1C
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Micropenis (HP:0000054)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Hypospadias (HP:0000047)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Hypospadias (HP:0000047)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Hypospadias (HP:0000047)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Macroglossia (HP:0000158)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Cleft palate (HP:0000175)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Pancreatic hyperplasia (HP:0006277)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Small placenta (HP:0006266)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe syndrome (ORPHA:85173)
Gene: CDKN1C
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Asthma (HP:0002099)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Polydactyly (HP:0010442)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Gene: CDKN1C
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Gene: CDKN1C
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: CDKN1C
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDKN1C
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDKN1C
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)