TaoMedAI/RareMedData huggingface dataset:
Gene: MEN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pallor (HP:0000980)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEN1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I (OMIM:131100)
Gene: MEN1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: MEN1
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: MEN1
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: MEN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Abnormality of the pancreatic islet cells (HP:0006476)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEN1
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I (OMIM:131100)
Gene: MEN1
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Gene: MEN1
Phenotype: Primary hypercortisolism (HP:0001579)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I (OMIM:131100)
Gene: MEN1
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Ependymoma (HP:0002888)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Decreased female libido (HP:0030018)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Meningioma (HP:0002858)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Fatigue (HP:0012378)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Fatigue (HP:0012378)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEN1
Phenotype: Hemianopia (HP:0012377)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEN1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Internal ophthalmoplegia (HP:0007942)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Glucagonoma (HP:0030404)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Glucagonoma (HP:0030404)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I (OMIM:131100)
Gene: MEN1
Phenotype: Intestinal carcinoid (HP:0006723)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pulmonary carcinoid tumor (HP:0030445)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Parathyroid carcinoma (HP:0006780)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEN1
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I (OMIM:131100)
Gene: MEN1
Phenotype: Abnormal pituitary gland morphology (HP:0012503)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Weight loss (HP:0001824)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Ptosis (HP:0000508)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Long foot (HP:0001833)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEOX1
Phenotype: Spina bifida (HP:0002414)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Synkinesis (HP:0034980)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Congenital muscular torticollis (HP:0005988)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Limitation of neck motion (HP:0005986)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Headache (HP:0002315)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Abnormal shoulder morphology (HP:0003043)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Neck pain (HP:0030833)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: MEOX1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MEOX1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MEOX1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Gene: MEOX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)