TaoMedAI/RareMedData huggingface dataset:
Gene: TSHR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Gene: TSHR
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Gene: TSHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Gene: TSHR
Phenotype: Hyperemesis gravidarum (HP:0012188)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Hyperemesis gravidarum (HP:0012188)
Associated disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Gene: TSHR
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Macroglossia (HP:0000158)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Macroglossia (HP:0000158)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Abnormal cry (HP:0025429)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Coldness (HP:0033850)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Increased radioactive iodine uptake (HP:0031220)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Constipation (HP:0002019)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Constipation (HP:0002019)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Gene: TSHR
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Diarrhea (HP:0002014)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Diarrhea (HP:0002014)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Hypothermia (HP:0002045)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Increased circulating free T3 (HP:0011788)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Impaired sensitivity to thyroid stimulating hormone (HP:0011789)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Thyrotoxicosis with diffuse goiter (HP:0011784)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Thyrotoxicosis with diffuse goiter (HP:0011784)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Activating thyroid-stimulating hormone receptor defect (HP:0011790)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Activating thyroid-stimulating hormone receptor defect (HP:0011790)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Thyroid hyperplasia (HP:0008249)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Thyroid hyperplasia (HP:0008249)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Thyroid hyperplasia (HP:0008249)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Gene: TSHR
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Hand tremor (HP:0002378)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Hand tremor (HP:0002378)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Pretibial myxedema (HP:0200028)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Short stature (HP:0004322)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Short stature (HP:0004322)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Agitation (HP:0000713)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Agitation (HP:0000713)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Goiter (HP:0000853)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Goiter (HP:0000853)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Goiter (HP:0000853)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Gene: TSHR
Phenotype: Goiter (HP:0000853)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Goiter (HP:0000853)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Gene: TSHR
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Gene: TSHR
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Jaundice (HP:0000952)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Edema (HP:0000969)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Facial edema (HP:0000282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Small for gestational age (HP:0001518)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Growth delay (HP:0001510)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Growth delay (HP:0001510)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Increased circulating T4 concentration (HP:0031506)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Increased circulating T4 concentration (HP:0031506)
Associated disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Gene: TSHR
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Fatigue (HP:0012378)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: TSHR
Phenotype: Fatigue (HP:0012378)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Abnormal eye morphology (HP:0012372)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSHR
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Athyreosis (ORPHA:95713)
Gene: TSHR
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 (OMIM:275200)
Gene: TSHR
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Tachycardia (HP:0001649)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Tachycardia (HP:0001649)
Associated disease: HYPERTHYROIDISM, FAMILIAL GESTATIONAL (OMIM:603373)
Gene: TSHR
Phenotype: Bradycardia (HP:0001662)
Associated disease: Hypothyroidism due to TSH receptor mutations (ORPHA:90673)
Gene: TSHR
Phenotype: Premature birth (HP:0001622)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Proptosis (HP:0000520)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Proptosis (HP:0000520)
Associated disease: HYPERTHYROIDISM, NONAUTOIMMUNE (OMIM:609152)
Gene: TSHR
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial gestational hyperthyroidism (ORPHA:99819)
Gene: TSHR
Phenotype: Weight loss (HP:0001824)
Associated disease: Resistance to thyroid stimulating hormone; Familial hyperthyroidism due to mutations in TSH receptor; Familial non-immune hyperthyroidism (ORPHA:424)
Gene: TSPY1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: TSPY1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: TSPY1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: TSPY1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: TSPY1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: TSPY1
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: TSPYL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Dysplastic testes (HP:0008733)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Partial development of the penile shaft (HP:0008708)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Staccato cry (HP:0025431)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Hypothermia (HP:0002045)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Hypothermia (HP:0002045)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Apnea (HP:0002104)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Stridor (HP:0010307)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Growth delay (HP:0001510)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Growth delay (HP:0001510)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Sudden death (HP:0001699)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TSPYL1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Gene: TSPYL1
Phenotype: Bradycardia (HP:0001662)
Associated disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Gene: TTN
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 (OMIM:608807)