TaoMedAI/RareMedData huggingface dataset:
Gene: RIN2
Phenotype: High myopia (HP:0011003)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: High myopia (HP:0011003)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Long philtrum (HP:0000343)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: High forehead (HP:0000348)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Eclabion (HP:0012472)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Pes planus (HP:0001763)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Pes planus (HP:0001763)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Infra-orbital fold (HP:0011232)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: MOV10L1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 73 (OMIM:619878)
Gene: MOV10L1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 73 (OMIM:619878)
Gene: MOV10L1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 73 (OMIM:619878)
Gene: MOV10L1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 73 (OMIM:619878)
Gene: MOV10L1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: MOV10L1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 73 (OMIM:619878)
Gene: RETREG1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Wormian bones (HP:0002645)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Hypogeusia (HP:0000224)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Scissor gait (HP:0012407)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: RETREG1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Paronychia (HP:0001818)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: RETREG1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: RETREG1
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Gene: MIEF1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: OPTIC ATROPHY 14 (OMIM:620550)
Gene: MIEF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY 14 (OMIM:620550)
Gene: MIEF1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 14 (OMIM:620550)
Gene: MIEF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: OPTIC ATROPHY 14 (OMIM:620550)
Gene: MIEF1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 14 (OMIM:620550)
Gene: RNF216
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Ataxia (HP:0001251)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Ataxia (HP:0001251)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Dysarthria (HP:0001260)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Chorea (HP:0002072)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Nystagmus (HP:0000639)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Personality changes (HP:0000751)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Dementia (HP:0000726)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Dementia (HP:0000726)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Childhood onset (HP:0011463)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: RNF216
Phenotype: Early young adult onset (HP:0025708)
Associated disease: GORDON HOLMES SYNDROME (OMIM:212840)
Gene: RNF216
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: DGCR8
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Hypotonia (HP:0001252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Specific learning disability (HP:0001328)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Open mouth (HP:0000194)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Cleft palate (HP:0000175)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Paranoia (HP:0011999)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Short stature (HP:0004322)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)