TaoMedAI/RareMedData huggingface dataset:
Gene: LFNG
Phenotype: Supernumerary vertebral ossification centers (HP:0004598)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Gene: LFNG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: LFNG
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LFNG
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LFNG
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LHB
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Decreased circulating dihydrotestosterone concentration (HP:0033810)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Azoospermia (HP:0000027)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Androgen insufficiency (HP:0008226)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Abnormality of the Leydig cells (HP:0010789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Testicular microlithiasis (HP:0012215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Early young adult onset (HP:0025708)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHB
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Gene: LHCGR
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: PRECOCIOUS PUBERTY, MALE-LIMITED (OMIM:176410)
Gene: LHCGR
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Long penis (HP:0000040)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEYDIG CELL HYPOPLASIA, TYPE I (OMIM:238320)
Gene: LHCGR
Phenotype: Sex-limited expression (HP:0001470)
Associated disease: PRECOCIOUS PUBERTY, MALE-LIMITED (OMIM:176410)
Gene: LHCGR
Phenotype: Precocious puberty in males (HP:0008185)
Associated disease: PRECOCIOUS PUBERTY, MALE-LIMITED (OMIM:176410)
Gene: LHCGR
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Acne (HP:0001061)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: LEYDIG CELL HYPOPLASIA, TYPE I (OMIM:238320)
Gene: LHCGR
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: LEYDIG CELL HYPOPLASIA, TYPE I (OMIM:238320)
Gene: LHCGR
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Male infertility (HP:0003251)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHCGR
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial peripheral male-limited precocious puberty; Familial gonadotropin-independent male-limited sexual precocity; Testotoxicosis; Male-limited precocious puberty; FMPP (ORPHA:3000)
Gene: LHX1
Phenotype: Language impairment (HP:0002463)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Ureterocele (HP:0000070)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Autism (HP:0000717)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LHX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Monosomy 17q12; 17q12 microdeletion syndrome; Del(17)(q12) (ORPHA:261265)
Gene: LIFR
Phenotype: Adducted thumb (HP:0001181)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Myotonia (HP:0002486)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Brachydactyly (HP:0001156)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Seizure (HP:0001250)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Hypotonia (HP:0001252)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Broad ischia (HP:0100865)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Clubbing (HP:0001217)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Hypoplastic iliac body (HP:0008824)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Scoliosis (HP:0002650)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Scoliosis (HP:0002650)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LIFR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LIFR
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Blotching pigmentation of the skin (HP:0007610)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Stüve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; STWS; Stüve-Wiedemann dysplasia; SWS; Stüve-Wiedemann syndrome type 1; SJS2; Neonatal Schwartz-Jampel syndrome (ORPHA:3206)
Gene: LIFR
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: LIFR
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: STUVE-WIEDEMANN SYNDROME (OMIM:601559)
Gene: LIFR
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIFR
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)