TaoMedAI/RareMedData huggingface dataset:
Gene: UFSP2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Esodeviation (HP:0020045)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Abnormal ossification involving the femoral head and neck (HP:0009107)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Coxa vara (HP:0002812)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Beukes familial hip dysplasia; Hip dysplasia, Beukes type; Cilliers-Beighton syndrome; BFHD; Premature degenerative osteoarthropathy of the hip (ORPHA:2114)
Gene: UFSP2
Phenotype: Irregular capital femoral epiphysis (HP:0005041)
Associated disease: BEUKES HIP DYSPLASIA (OMIM:142669)
Gene: UFSP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE (OMIM:617974)
Gene: UFSP2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UFSP2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Exotropia (HP:0000577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Esotropia (HP:0000565)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 (OMIM:620028)
Gene: UFSP2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: UFSP2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MNS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: MNS1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: MNS1
Phenotype: Male infertility (HP:0003251)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: MNS1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: MNS1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: MNS1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: MNS1
Phenotype: Asplenia (HP:0001746)
Associated disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Gene: ACER3
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Areflexia (HP:0001284)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Developmental regression (HP:0002376)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Joint contracture (HP:0034392)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Low-set ears (HP:0000369)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Prominent nose (HP:0000448)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: ACER3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET (OMIM:617762)
Gene: GIMAP5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Portal hypertension (HP:0001409)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Esophageal varix (HP:0002040)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Hemoptysis (HP:0002105)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Childhood onset (HP:0011463)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Petechiae (HP:0000967)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Ascites (HP:0001541)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Ecchymosis (HP:0031364)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Fatigue (HP:0012378)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Epistaxis (HP:0000421)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: GIMAP5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PORTAL HYPERTENSION, NONCIRRHOTIC, 2 (OMIM:619463)
Gene: SLC35C1
Phenotype: Broad palm (HP:0001169)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Microtia (HP:0008551)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Seizure (HP:0001250)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Ataxia (HP:0001251)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Abnormal isohemagglutinin level (HP:0410292)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Narrow palate (HP:0000189)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)