Gene: Gulo MGI:1353434

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

gulonolactone (L-) oxidase

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gulo mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gulo by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Osteolysis, Scoliosis, Abnormal form of the vertebra... ORPHA:93160
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Reduced bone mineral density, Jaundice, Failure to thriv... ORPHA:172
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Growth delay, Metaphyseal cupping, Bowing of the legs, Flared met... OMIM:619073
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Difficulty walking, Rickets, Recurre... OMIM:600081
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hyperphosphaturia, Hypophospha... ORPHA:157215
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Splenic rupture, Intr... ORPHA:98878
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Chron... OMIM:300554
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Albers-Schönberg Osteopetrosis
Hypocalcemia, Genu valgum, Abnormality of epiphysis morphology, Recurrent fractures, Generalized ... ORPHA:53
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Myeloid leukemia, Joint hemorrhage, Intramuscular h... ORPHA:331
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gas... ORPHA:99147
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Bowing of the legs, Thin bony cortex, Del... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Difficulty walking, Rickets, Hypopho... OMIM:241530
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Bowing of the legs, Thin bony cortex, Del... OMIM:277440
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Joint hemo... OMIM:277480
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Gait disturbanc... ORPHA:2501
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Growth delay, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Post... ORPHA:93324
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Arthropathy, Joint hemorrhage, Intraventricu... ORPHA:169805
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Chron... OMIM:300009
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Femur fracture, Sandwich appearance of vertebral bodies, Osteopet... OMIM:259700
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome... OMIM:307800
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Bone pain, Postnatal growth retardation, Increased susceptibility to fractures, Thi... ORPHA:289157
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Premature coronary artery atherosclerosis, Hypertension, Myocardial infarct... OMIM:615703
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Flexion contracture, Spinal rigidity, Falls, Elevated circulating creatine kinase c... OMIM:615883
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Infantile hypercalcemia, Hyperphosphaturia, Osteopenia, Hypercalciuria, General... ORPHA:99879
Bleeding Disorder In Hemophilia A Carriers Without Fviii Deficiency
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Prolonged bleeding after d... ORPHA:177926
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Cortical subperiosteal resorption of humeral metaphyses, Increased bone density wit... ORPHA:94089
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:601709
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Nephrocalcinosis, Metaphyseal chondrodysplasia, Hyperphosp... OMIM:156400
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypercholesterolemia, Hypertension OMIM:608320
Alpha-Heavy Chain Disease
Hypocalcemia, Growth delay, Hepatomegaly, Anemia, Splenomegaly, Alopecia, Premature ovarian insuf... ORPHA:100025
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Hyperphosphaturia, Rickets, Tooth abscess... ORPHA:89937
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... OMIM:271530
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Aminoaciduria, Hepatome... ORPHA:417
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Intra... ORPHA:324636
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Elevated circulating growth hormone concentration, In... ORPHA:249
Congenital Factor Xi Deficiency
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding after dental... ORPHA:329
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrh... OMIM:306800
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bo... ORPHA:210110
Hemophilia B
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhag... OMIM:306900
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Waddling gait, Short femoral neck, Hump-shaped mound of ... ORPHA:99642
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, ... OMIM:227500
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hirsutism, Hepatomegaly, Hypertriglyceride... OMIM:612526
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Proportionate short stature, Intrauterine growth retardation, Slender long bone, Sm... OMIM:244460
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Abnormality of the tarsal bones, Hyperph... ORPHA:352540
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Metaphyseal irregularity, Hyperphosphaturia, Polyuria, Aminoaciduria, Recurrent... OMIM:239200
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Hypercholesterolemia, Hypertension, Sudden cardiac death, Myocardial infarction, Hy... OMIM:610947
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration, Tendon xanthomatosis, Premat... OMIM:618666
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Hypoproteinemia, Malnutrition, Gastrointe... ORPHA:2494
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Joint hemorrhage, Prolonged bleeding time, Int... ORPHA:98879
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Osteoporosis, Microcytic... ORPHA:398063
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged b... OMIM:193400
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Generalized aminoaciduria, Rickets, Proximal tubulopathy, Glycosuria, Hypercalc... OMIM:613388
Glycogen Storage Disease Vi
Hypercholesterolemia, Postnatal growth retardation, Failure to thrive in infancy, Hypertriglyceri... OMIM:232700
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Bruising suscep... OMIM:173470
Oculoskeletodental Syndrome
Scoliosis, Cryptorchidism, Hypocalcemia, Low anterior hairline, Renal agenesis, Low posterior hai... OMIM:618440
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Hypophosphatemic Rickets And Hyperparathyroidism
Parathyroid hyperplasia, Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic ric... OMIM:612089
Hypophosphatasia, Infantile
Platyspondyly, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Craniosynostosis, Uno... OMIM:241500
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibil... OMIM:612287
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Scoliosis, Toe syndactyly, Sparse scalp hair, Reduced bone mineral density, Sho... ORPHA:2611
Mccune-Albright Syndrome
Scoliosis, Accelerated skeletal maturation, Abnormal endocrine physiology, Elevated circulating g... ORPHA:562
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Pigmentary retinopathy, Rickets, Ataxia, Myoclonus OMIM:560000
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, Menorrhagia, Gingiv... OMIM:227600
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, El... OMIM:603233
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia, Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Incre... OMIM:612286
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Mild short stature, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, ... OMIM:617719
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Growth delay, Osteopetrosis, Panc... OMIM:259720
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Disproportionate sho... ORPHA:174
Dent Disease
Bulging epiphyses, Hematuria, Metaphyseal irregularity, Renal hypophosphatemia, Bone pain, Hyperc... ORPHA:1652
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Hypocalcemia, Short palm, Delayed skeletal maturation, Postnatal growth retardati... OMIM:241410
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Dislocated radial head, Limited elbow extension, Scoliosis, Platyspondyly, Joint l... ORPHA:93359
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Postnatal growth retardation, Renal tubular acidosis, Osteomalacia, Pathologic frac... OMIM:179800
Monosomy 5P
Scoliosis, Finger syndactyly, Joint hyperflexibility, Recurrent fractures, Small hand, Short stat... ORPHA:281
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Pseudohypoparathyroidism Type 2
Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Laryngeal dystonia, Elevated circula... ORPHA:94090
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:605735
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, I... OMIM:259450
Insulin-Like Growth Factor I Deficiency
Osteopenia, Clinodactyly, Radial deviation of finger, Hyperactivity OMIM:608747
Hypophosphatemia, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, Gait disturbance, Amin... ORPHA:213
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Short neck, Broad tibial metaphyses, Childhood-onset short-trunk short... OMIM:271630
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, I... ORPHA:79
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Abnormal bleeding, Sto... OMIM:210250
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Bruising susceptibility, Ec... OMIM:277450
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Increased susceptibility to fractures, Elevated hepatic ir... ORPHA:231222
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Difficulty walking, Contractures of the joints of the lower limbs, Paralysis, Talipes e... OMIM:613710
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cone-shaped epiphysis, Ataxia, Retinal dystrophy, Cataract, ... ORPHA:3156
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Hemophilia A
Persistent bleeding after trauma, Joint hemorrhage, Osteoarthritis, Bruising susceptibility OMIM:306700
Hypercholanemia, Familial 1
Rickets OMIM:607748
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Macrovesicular hepatic steatosis, Hirsutism, Neutropenia, Coarse hair, Acetabu... OMIM:617303
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, EMG: myopathic abnormalities, A... ORPHA:488650
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... OMIM:618889
Factors Viii, Ix And Xi, Combined Deficiency Of
Joint dislocation, Joint hemorrhage, Ecchymosis, Bruising susceptibility OMIM:134520
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Ataxia, Increased bone mineral density,... OMIM:136300
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Rickets, Hepatocellular carcinoma... ORPHA:2088
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Abnormal renal tubule morphology, Abnormality of epiphysis morphology, Recurrent fra... ORPHA:2785
Osteogenesis Imperfecta, Type V
Joint hypermobility, Platyspondyly, Biconcave vertebral bodies, Recurrent fractures, Anterior rad... OMIM:610967
X-Linked Hypophosphatemia
Genu valgum, Craniosynostosis, Sacroiliac joint synovitis, Flared iliac wing, Rickets, Flattening... ORPHA:89936
Oculocerebrodental Syndrome
Scoliosis, Hypocalcemia, Hyperlordosis, Thoracic kyphosis, Abnormality of the frontal hairline, M... ORPHA:557003
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Short stature, Abnormal hemoglobin ORPHA:3319
Kaposiform Lymphangiomatosis
Abnormality of the ischium, Anemia, Lymphangioma, Abnormal sacrum morphology, Multiple renal cyst... ORPHA:464329
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Generalized j... ORPHA:85198
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, ... ORPHA:2924
Gracile Bone Dysplasia
Hypocalcemia, Micropenis, Slender long bone, Asplenia, Flared metaphysis, Decreased skull ossific... OMIM:602361
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Mild short stature, Kyphosis, Increased susceptibility to fractures, Con... OMIM:130060
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Hypophosphatemia, Renal insufficiency, Hyperphosp... ORPHA:99877
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Laryngeal dystonia, Autoimmune... ORPHA:36913
Anauxetic Dysplasia 1
Platyspondyly, Disproportionate short stature, Delayed ossification of carpal bones, Hypoplastic ... OMIM:607095
Aggressive Systemic Mastocytosis
Neutropenia, Weight loss, Anorexia, Pancytopenia, Decreased liver function, Diarrhea, Pathologic ... ORPHA:98850
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Sanjad-Sakati Syndrome
Cryptorchidism, Hypocalcemia, Delayed skeletal maturation, Postnatal growth retardation, Severe i... ORPHA:2323
Dysequilibrium Syndrome
Cataract, Gait disturbance, Cerebral palsy, Ataxia ORPHA:1766
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Weight loss, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess ... ORPHA:47
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholest... OMIM:144300
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Short fifth metatarsal, Short metatarsal, Pseudohypoparathyroidism, Low urinary cyc... ORPHA:79444
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Severe short ... OMIM:618728
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient hypophosphatemia, ... OMIM:127000
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Wrist pain, Hypercalcemia, Coxa valga, Delayed skeletal matu... OMIM:191420
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
2P21 Microdeletion Syndrome
Hypocalcemia, Growth delay, Long eyelashes, Cystinuria, Failure to thrive, Hypogonadism, Nephroli... ORPHA:163693
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Microcytic anemia, Pat... ORPHA:90308
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Cartilage-Hair Hypoplasia
Scoliosis, Hypocalcemia, Accelerated skeletal maturation, Neutropenia, Anemia, Abnormality of the... ORPHA:175
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Platyspondyly, Metaphyseal irregularity, Abnormal hair morphology, Difficulty walki... ORPHA:319195
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Postnatal growth retardation OMIM:615361
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Cryptorchidism, Hypocalcemia, Accelerated skeletal maturation, Short metatarsal, Short... ORPHA:280651
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Hypocalcemic tetany, Lo... OMIM:612462
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Halberd-shaped pelvis, Abnormal cortic... ORPHA:2635
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Short thumb OMIM:274205
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Enlarged kidney, Recu... ORPHA:251004
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Abnormal vertebral morphology, Restricted large joint m... ORPHA:163665
Osteogenesis Imperfecta, Type Xix
Scoliosis, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Severe short stature, Ost... OMIM:301014
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Severe short-limb dwarfism, Abnormal form of the verte... ORPHA:1426
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Urinary bladder sphincter dysfunction, Abnormality of long bone morphology, Osteol... ORPHA:52430
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hip dysplasia, Rickets, Joint hyperflexibility, Avascular necrosis of the capital f... ORPHA:1901
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Mild short stature, Metaphyseal irregularity, Kyphosis, Ov... ORPHA:93315
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Epistaxis,... ORPHA:319218
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone morp... ORPHA:970
Ollier Disease
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Bone pain, Multiple enchondromatosis, L... ORPHA:296
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Short metatarsal, Pseudohypoparathyroidism, Hypothyroidism, Short finger, Hypocalce... OMIM:103580
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Disproportionate short stature, Joint laxity, Metaphyseal ir... OMIM:602557
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Renal hypophosphatemia, Bone pain, Increased bone mineral density, Rickets of t... ORPHA:289176
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Failure to thrive in infancy, Hy... ORPHA:436
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Recurrent fractures, Osteopetrosis, Sclerotic vertebral endplates,... OMIM:611490
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Arteriosclerosis, Esophageal varix, Hypertriglyceridemia, Diarrhea, Hepatic... ORPHA:75234
Hypophosphatemic Rickets
Bone pain, Hyperostosis, Hypercalciuria, Hypercalcemia, Joint stiffness, Elevated circulating par... ORPHA:437
Marburg Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Subconjunctival hemorrhage, Weigh... ORPHA:99826
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cataract OMIM:617133
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Epistaxis, Thrombocyto... ORPHA:99828
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Pulmonary a... OMIM:278000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Cataract ORPHA:2815
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Growth delay, Esophageal varix, Pancytopenia, Retinal telangiectasia... OMIM:617341
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Lethargy OMIM:611590
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Abnormal bleeding, Gastrointestinal hemorrhage, Failure to thrive, Splenomegaly, Ma... ORPHA:79301
H Syndrome
Camptodactyly, Histiocytosis, Delayed puberty, Hypertrichosis, Decreased testicular size, Micrope... ORPHA:168569
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence o... ORPHA:2410
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Platyspondyly, Kyphosis, Osteopetrosis, Ataxia, Metaphyseal widening OMIM:618476
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Bone pain, Osteomalacia, Hypercalcemia, Primary... OMIM:600740
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Glycerol Kinase Deficiency
Osteoporosis, Cryptorchidism, Adrenocortical hypoplasia, Lethargy, Growth delay, Hypertriglycerid... OMIM:307030
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Beaking of vertebral bodies, Irregular vertebral endplates, Jo... OMIM:604864
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Osteoporosis, Platyspondyly, Enlarged interphalang... OMIM:208230
Urban-Rogers-Meyer Syndrome
Osteoporosis, Cryptorchidism, Camptodactyly of finger, Toe syndactyly, Short neck, Abnormality of... ORPHA:3409
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Delayed skeletal maturation, Postnatal growth retardation, Me... OMIM:614732
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... OMIM:127200
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Genu valgum, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoacidur... OMIM:618913
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Pseudohypoparathyro... ORPHA:79443
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormality of the urinary system, Abnormal cortical bone mo... ORPHA:2204
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Failure to thrive, Gastrointestinal hemorrhage, Splenomegaly ORPHA:79302
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Tendon xanthomatosis, Atheroscler... OMIM:603813
Osteoporosis, Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, ... OMIM:616000
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Osteoporosis, Joint laxity, Loss of ability to walk, Crump... ORPHA:2788
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Myoclonus OMIM:610539
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Chronic noninfectious lym... ORPHA:97289
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Glomerulopathy, Hypercalcemia, Anemia, Renal insufficiency, Hyperparathyroidism, Prote... ORPHA:2668
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multip... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Dysphagia, Intestinal pseudo-obstruction, ... ORPHA:85446
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Temple Syndrome
Hypercholesterolemia, Joint hypermobility, Overweight, Feeding difficulties, Flexion contracture,... OMIM:616222
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abdomina... ORPHA:732
Takayasu Arteritis
Gastrointestinal infarctions, Hypertensive crisis, Hypertension, Vascular dilatation, Weight loss... ORPHA:3287
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Gait disturbance, Recurrent fractures, Bone pain, Increased spinal bone density, Spastic gait ORPHA:329475
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Osteogenesis Imperfecta, Type Xiv
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Short stature, Osteopenia,... OMIM:615066
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsa... OMIM:101800
Rhabdoid Tumor
Internal hemorrhage, Abdominal pain, Hypertension, Weight loss, Thrombocytopenia, Neoplasm of the... ORPHA:69077
Lichtenstein Syndrome
Osteoporosis, Hirsutism, Neutropenia, Synophrys, Increased susceptibility to fractures, Metacarpo... OMIM:246550
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia, Short distal phalanx of finger OMIM:241519
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism, Osteopenia, Nephrolithiasis OMIM:617343
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Growth delay, Hypertriglyceridemia OMIM:306000
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Decreased plasma carnitine, Anemia OMIM:611283
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Delayed pubic bone ossification, Type E brachydactyly, Limited elbow extension, Ab... ORPHA:1856
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Villous atrophy, Protein-losing enteropathy, Diarrhea, Hypoalbuminemia, Fai... OMIM:615863
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Short distal phalanx of finger, Optic atrophy, Brachydactyly ORPHA:2787
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... OMIM:608728
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Corneal opacity, Abnormality of the metacarpal bones, Reduced bone mineral density... ORPHA:2370
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Ovoid vertebral bodies, Elevated circulating thyroid-stimulating hormone conce... OMIM:242900
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormality of the vertebral endplates, Recurrent fractures, Osteopetrosis, G... OMIM:166600
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Fla... OMIM:184260
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Disproportion... ORPHA:93351
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Hypophosphatemia, Squared iliac bones, Renal phosphate wasting, Scoliosis, Disproportionate short... OMIM:258480
Hyperlordosis, Osteolysis, Abnormality of the vertebral column, Abnormal vertebral morphology, Ab... ORPHA:763
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of CD4-positive helper T cells,... ORPHA:543
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Osteoporosis, Tremor, Gait ataxia, Apraxia, Dysmetria, Osteopenia, Optic atrop... OMIM:617810
Ring Chromosome 10 Syndrome
Hypocalcemia, Sandal gap, Cachexia, Intrauterine growth retardation, Renal hypoplasia/aplasia, Sh... ORPHA:1438
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Flexion contracture, Cataract, Stereotypy, Spasticity OMIM:617393
Lujo Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Cardiac arrest, Nausea and vomiting ORPHA:319213
Juvenile Polyposis Of Infancy
Abnormal bleeding, Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hem... ORPHA:79076
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Maffucci Syndrome
Neoplasm of the parathyroid gland, Scoliosis, Osteolysis, Goiter, Ovarian neoplasm, Growth delay,... ORPHA:163634
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Achondrogenesis Type 2
Delayed pubic bone ossification, Abnormal bone ossification, Delayed proximal femoral epiphyseal ... ORPHA:93296
Parathyroid Carcinoma
Bone pain, Weight loss, Hypercalciuria, Hypercalcemia, Primary hyperparathyroidism, Renal hamarto... ORPHA:143
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Bowing of the long bones, Recurren... OMIM:239000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia, ... OMIM:619398
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Osteoporosis, Thrombocytosis, Rickets, Thyroiditis, Ataxia,... OMIM:212750
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Nausea, Hypertension,... ORPHA:90065
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions, Ar... ORPHA:1059
Gaucher Disease Type 1
Hematuria, Bone pain, Increased bone mineral density, Pancytopenia, Delayed puberty, Pathologic f... ORPHA:77259
Familial Expansile Osteolysis
Osteolysis, Hydroxyprolinuria, Bowing of the long bones, Bone pain, Pathologic fracture, Thin bon... OMIM:174810
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Disproportionate short stature, Broa... OMIM:609616
Bruck Syndrome 2
Platyspondyly, Hydroxyprolinuria, Flexion contracture, Increased susceptibility to fractures, Kne... OMIM:609220
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Proportionate short stature, Flat capital femoral epiphysis, Genu var... OMIM:608361
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, O... OMIM:166260
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Hypopigmentation of hair, Albinism, Kyphosis, Short stature ORPHA:2786
Lumbosacral meningocele, Nephroblastomatosis, Short neck, Enlarged kidney, Nephrogenic rest, Cyst... OMIM:608022
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Joint hyperflexibility, 2-3 toe syndactyly, Recurrent fractures, Postnatal growth retardation, Sp... ORPHA:2324
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Platyspondyly, Flexion contracture, Failure to thrive, Flattened epiphy... ORPHA:157965
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis... ORPHA:2239
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Hypophosphatemia, Osteoporosis, Bone pain, Hypercalciuria, Hypercalcemia... ORPHA:99878
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Joint laxity, Recurrent fractures, Coarse hair, Short stature, Epiphyseal dysplasia OMIM:248010
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Thyroiditis, Neutropenia, Abnormal blood ion concentrat... ORPHA:37042
Pyle Disease
Scoliosis, Genu valgum, Limited elbow extension, Platyspondyly, Reduced bone mineral density, Met... OMIM:265900
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Splenomegaly, Short stature, Anemia o... OMIM:613673
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Epiphyseal Chondrodysplasia, Miura Type
Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal dysplasia OMIM:615923
Eosinophilic Gastroenteritis
Hematochezia, Leukocytosis, Abnormality of the gastrointestinal tract, Dysphagia, Abdominal pain,... ORPHA:2070
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hypermobility, Arrhythmia, Gastrointestinal hemorrhage, Joint hyperflexibility, Precocious ... ORPHA:230839
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Rift Valley Fever
Abnormal retinal artery morphology, Gastrointestinal hemorrhage, Purpura, Weight loss, Anorexia, ... ORPHA:319251
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Short finger, Kyphosis, Sclerosis of skull base, Severe short stature, Thoracolumb... OMIM:313420
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia OMIM:146200
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Abnormality of hair texture, Abnormality of epi... ORPHA:667
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hyperparathyroidism OMIM:618107
Crimean-Congo Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Epistaxis, Thrombocytopenia, Pete... ORPHA:99827
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intracranial hemorrhage, Melena, Cerebra... ORPHA:464321
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Osteoma... OMIM:227810
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Coxa vara, Narrow greater s... OMIM:602271
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Osteoporosis, Nephrocalcinosis, Thyroid carcinoma, Infantile hypercalcemia, Bon... ORPHA:99880
Rajab Interstitial Lung Disease With Brain Calcifications 1
Scoliosis, Hypocalcemia, Cirrhosis, Slender build, Joint laxity, Rickets, Hepatic steatosis, Grow... OMIM:613658
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Broad long bones, Absent ossification of calvaria, Recurrent fractures, Tibial bow... OMIM:166210
Xanthelasma, Hypercholesterolemia, Accelerated atherosclerosis, Premature coronary artery atheros... ORPHA:412
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Myoclonus, Extra... ORPHA:71277
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Hypergonadotropic hypogonadism, Long eyelashes, Cystinuria, Failure to thrive, Neph... OMIM:606407
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Platyspondyly, Metaphyseal irregularity, Proportionate short stature, Narrow iliac w... OMIM:601668
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Metacarpal periosteal thickening, Hypercalcemia, Elevated circulating pa... OMIM:617994
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Coxa vara, Increased su... OMIM:610968
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Hypoparathyroidism, Hypothyroidism, Nephropathy, Short distal phalanx of finger, Sh... ORPHA:1563
Autosomal Dominant Kenny-Caffey Syndrome
Abnormal circulating follicle-stimulating hormone concentration, Growth delay, Delayed skeletal m... ORPHA:93325
Primary Fanconi Renotubular Syndrome
Bone pain, Increased urinary potassium, Weight loss, Hypercalciuria, Renal sodium wasting, Chroni... ORPHA:3337
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... OMIM:271650
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cerebral hemorrhage, Per... ORPHA:774
Pathologic fracture, Hypercalcemia, Bone pain ORPHA:55881
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Ck Syndrome
Scoliosis, Joint hypermobility, Hyperlordosis, Slender build, Kyphosis, Abnormal digit morphology... OMIM:300831
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Hyperactivity, Short neck, Atlantoaxial instability, Genu valgum, Limited ... ORPHA:239
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Weight loss, Splenomegaly ORPHA:52416
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Clubbing of fingers, Hypokalemia, Cachexia, Anemia, Alopecia, Hypomagnesemia, Clubb... OMIM:175500
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Post-partum hemorrhage, Oral cavity bleeding, Hyperbilirub... ORPHA:98870
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypoplasia of the radius, Short femur, Hypocalcemia, Rhizomelia, Short humerus, S... OMIM:607143
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Gait disturbance, Ataxia, Sea-blue histiocytosis, Coxa valga OMIM:230600
Van Buchem Disease
Cranial hyperostosis, Optic atrophy from cranial nerve compression, Thickened cortex of long bone... OMIM:239100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Tapered toe, Macrovesicular hepatic steatosis, Long toe, Cardiomegaly,... OMIM:608836
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Hypoproteinemia, Hypocalcemia, Postaxial hand polyda... OMIM:235255
Osteogenesis Imperfecta, Type Iii
Scoliosis, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior fontanel, Biconc... OMIM:259420
Abnormality of tibia morphology, Abnormal cortical bone morphology, Joint stiffness, Clubbing of ... ORPHA:1525
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... OMIM:215140
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Lymphopenia, Weight loss, Hy... ORPHA:90362
Infantile Myofibromatosis
Osteolysis, Abnormal hair morphology, Bone cyst, Hypercalcemia, Limitation of joint mobility, Abn... ORPHA:2591
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Gait disturbance, Toe walking, Abnormal... ORPHA:83629
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphol... ORPHA:1822
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mi... OMIM:166740
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Genu valgum, Metaphyseal sclerosis, Dystonia, Scoliosis, Sparse hair, Bowing of the... OMIM:612199
Tyrosinemia, Type I
Cirrhosis, Hypertyrosinemia, Enlarged kidney, Renal Fanconi syndrome, Hypophosphatemic rickets, G... OMIM:276700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Postaxial hand polyda... ORPHA:1655
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Scoliosis, Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morpholog... ORPHA:457059
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Pancytopenia, Peripheral arterial stenosis, Leukopenia, Anemia OMIM:167850
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Vacuolated lymphocytes, Weight loss, Decreased liver function,... ORPHA:275761
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal calcium-phosphate regulating hormone level, Nephropathy, Short stature, Hy... ORPHA:2238
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Large hands, Cata... ORPHA:2671
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Bruck Syndrome
Osteoporosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Bowing of t... ORPHA:2771
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Hip dislocation, Arthrogryposis multiplex congenita, Spasticity OMIM:212540
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Shor... OMIM:601561
Wilson Disease
Acute hepatitis, Cirrhosis, Difficulty walking, Hepatic steatosis, Back pain, Bone pain, Weight l... ORPHA:905
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Recurrent fractures, Abnormal cortical bone morphology, Sl... ORPHA:1486
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Kyphosis, Irregular vertebral endplates, Metaphyseal dysp... OMIM:234250
Geroderma Osteodysplastica
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormality of epiphysis morp... ORPHA:2078
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Dislocated radial head, Camptodactyly of finger, Platyspondyly, Short p... OMIM:612350
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Mild short stature, Short... OMIM:156500
Glycogen Storage Disease Ib
Osteoporosis, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hype... OMIM:232220
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Hyponatremia, Anorexia, M... ORPHA:3452
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Postnatal growth retardation, Pa... ORPHA:699
Osteoporosis, Abnormal form of the vertebral bodies, Bone cyst, Back pain, Painless fractures due... ORPHA:2583
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Apraxia, Gait disturbance, Bone cyst, Pathologic fracture, Myoclonus, Babinski sign, Osteopenia OMIM:618193
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Bone pain, Hyperproteinemia, ... ORPHA:29073
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Rhizomelia, Abnormality of the elbow, Joint hyperflexibility, Patent ... ORPHA:1842
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:2869
Hypercholesterolemia, Fatal liver failure in infancy, Feeding difficulties, Growth delay, Failure... ORPHA:263501
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Postaxial pol... OMIM:614500
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Growth delay, Recurrent fractures, Aplasia/Hypoplasia of t... ORPHA:2176
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Juvenile Nephropathic Cystinosis
Hypocalcemia, Abnormality of long bone morphology, Elevated circulating creatinine concentration,... ORPHA:411634
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis, Hypertension, Myocardial infarction, Truncal obes... OMIM:615812
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Chylomicron Retention Disease
Malnutrition, Hypotriglyceridemia, Growth delay, Steatorrhea, Hypocholesterolemia, Decreased LDL ... OMIM:246700
Al Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tac... ORPHA:85443
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Cryptorchidism, Hypercholesterolemia, Hematuria, Hypercalciuria, Delayed puberty, Join... ORPHA:534
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Recurrent fractures, ... ORPHA:1306
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa ... OMIM:613982
Occipital Horn Syndrome
Large iliac wing, Abnormality of fibula morphology, Aplastic clavicle, Osteoporosis, Hip dysplasi... ORPHA:198
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Ovoi... OMIM:608940
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Feeding difficulties in infancy, Villous atrophy, D... OMIM:616050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Increased susceptibility to fr... ORPHA:79259
Neuronopathy, Distal Hereditary Motor, Type Iia
Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Dystonia, Cirrhosis, Microvesi... OMIM:256810
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Premature pubarche, Lumbar scoliosis, Hirsutism, Irregular vertebral endplates, Bo... OMIM:612847
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Hypercholesterolemia, Hepatocellular adenoma, Growth delay, Nausea, Esophageal vari... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased liver function, Decreased circulating ceruloplasmin concentration... OMIM:616829
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Scoliosis, Platyspondyly, Coronal cleft vertebrae, Short middle phalanx of... OMIM:256050
Platyspondyly, Sclerosis of hand bone, Disproportionate short stature, Progressive bowing of long... OMIM:224300
Kniest Dysplasia
Platyspondyly, Short neck, Coronal cleft vertebrae, Hypoplastic pelvis, Gait disturbance, Flatten... OMIM:156550
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Joint hypermobility, Feeding difficulties, Postnatal growth retardation, In... ORPHA:254531
Idiopathic Achalasia
Malnutrition, Decreased prealbumin level, Dysphagia, Gastroesophageal reflux, Weight loss ORPHA:930
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Small for gestational age, De... ORPHA:93360
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Purpura, Abdominal pain, Growth delay, Diarrhea, Vascul... ORPHA:343
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... ORPHA:97290
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Joint hypermobility, Scoliosis, Platyspondyly, Long eyelash... OMIM:614856
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Extramedullary hematopoiesis, Recurrent fractures, Osteopetrosis, Pancytopenia, Thro... OMIM:259710
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Abdominal pain, Budd-Chi... ORPHA:729
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Bowing of the long bones, Sandal gap, Cataract,... ORPHA:2725
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Synovitis, Reduced bone... ORPHA:85435
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Scoliosis, Platyspondyly, Recurrent fractures, Coxa vara, Bowi... OMIM:619131
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thoracic kyphosis, Joint stiffness, Hypoalbuminemia, Anemia, Leukopenia, Hypertrichosis, Short ne... ORPHA:505248
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... ORPHA:319487
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short stature, Kyphoscoliosis, Abnormality of the meta... ORPHA:93304
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation OMIM:301033
Ceroid Lipofuscinosis, Neuronal, 3
Abnormality of extrapyramidal motor function, Cataract, Progressive inability to walk, Parkinsoni... OMIM:204200
Mucolipidosis Type Iii
Large iliac wing, Craniofacial hyperostosis, Hypoplastic inferior ilia, Corneal opacity, Reduced ... ORPHA:577
Chylomicron Retention Disease
EMG: myopathic abnormalities, Fat malabsorption, Growth delay, Steatorrhea, Hypocholesterolemia, ... ORPHA:71
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Maternal diabetes, Abnormal vertebral morphology, Aplasia/hypoplasia involving bon... ORPHA:93346
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increas... ORPHA:457395
Osteogenesis Imperfecta, Type Iv
Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility ... OMIM:166220
Juvenile Paget Disease
Osteoporosis, Bowing of the long bones, Recurrent fractures, Hyperuricemia, Coarse metaphyseal tr... ORPHA:2801
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Skeletal muscle atrophy, Splenomeg... OMIM:616828
Autosomal Dominant Hypocalcemia
Hypocalcemia, Writer's cramp, Hypercalciuria, Reduced bone mineral density, Hypermagnesiuria, Alo... ORPHA:428
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Waddling gait, Small epiphyses, Short femoral neck, Short neck, ... ORPHA:94068
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Short phalanx ... OMIM:250215
Glycogen Storage Disease Ia
Osteoporosis, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellular carcinoma, Hype... OMIM:232200
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Failure to thrive, Short stature ORPHA:181393
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration ORPHA:425
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Hypertonia, Abnormality of the metacarpal bones, Abnormality of the metaphysis,... ORPHA:2636
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Scoliosis, Recurrent fractures, Severe short stature, Osteopenia, Fe... OMIM:126550
Distal Renal Tubular Acidosis
Hypocitraturia, Bone pain, Hypercalciuria, Increased susceptibility to fractures, Low-molecular-w... ORPHA:18
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Rhyns Syndrome
Abnormality of long bone morphology, Rod-cone dystrophy, Hypoplastic ilia, Small epiphyses, Osteo... ORPHA:140976
Carcinoma Of Esophagus
Dysphagia, Esophageal neoplasm, Gastroesophageal reflux, Weight loss, Abnormal intestine morpholo... ORPHA:70482
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Thrombocytopenia, Diarrhea, Anemia, Failure to ... OMIM:617475
Juvenile Dermatomyositis
Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Angin... ORPHA:93672
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Synostosis of... ORPHA:321
Cantu Syndrome
Short hallux, Osteoporosis, Platyspondyly, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
Cranioectodermal Dysplasia 1
Hypocalcemia, Joint laxity, Short distal phalanx of finger, Slow-growing hair, Chronic kidney dis... OMIM:218330
Transaldolase Deficiency
Telangiectasia, Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Coarctati... ORPHA:101028
Idiopathic Juvenile Osteoporosis
Osteoporosis, Gait disturbance, Kyphosis, Recurrent fractures, Bone pain, Vertebral compression f... ORPHA:85193
Hypervitaminosis A, Susceptibility To
Lower limb pain, Alopecia totalis, Hypercalcemia, Renal insufficiency, Abnormality of the liver OMIM:240150
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Abdominal pain, Reduced bone mineral density, Splenomegaly, Nausea a... ORPHA:1414
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatocellular adenoma, Growth delay, Hepatocellular carcinoma, Rhabdomyoly... ORPHA:370
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevated circulating creatinine co... ORPHA:247691
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Coronary artery aneurysm, Abnormal left ventricular function, Cerebral arte... ORPHA:391665
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Abnormal sacroiliac joint morphology, Osteolysis, Craniofaci... ORPHA:324964
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Purpura, Gastrointestinal infarctions, Abdominal pain, Petechiae, Sp... ORPHA:91138
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Epistaxis, Diarrhea, Cardi... ORPHA:99745
Mixed Connective Tissue Disease
Osteolysis, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Purpura, Prolonged bleed... ORPHA:809
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Scoliosis, Joint hypermobility, Craniosynostosis, Recurrent fractures, Osteopenia, Eosinophilia OMIM:147060
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Abnormal pyramidal sign, Ataxia, Cataract, Microcornea, Dy... ORPHA:48431
Marshall-Smith Syndrome
Scoliosis, Accelerated skeletal maturation, Craniosynostosis, Joint hyperflexibility, Bowing of t... ORPHA:561
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Abnormality of finger, Hyperphosphaturia, Hypophosphatemic rickets, Growth dela... OMIM:163200
Platyspondyly, Craniofacial hyperostosis, Recurrent fractures, Irregular vertebral endplates, Inc... ORPHA:1782
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Weight loss, Hypercalcemia, Eosinophilia, Adren... ORPHA:199299
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia, Abnormality of the lymphatic system, Arthritis ORPHA:90363
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Papillary renal cell carcinoma, Recurrent pa... OMIM:145001
Primary Familial Polycythemia
Abnormal bleeding, Abdominal pain, Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Duchenne And Becker Muscular Dystrophy
Slender long bone, Reduced bone mineral density, Gait disturbance, Joint stiffness ORPHA:262
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Severe short stature, Coxa vara, Limitation of joint mobility, Short palm ORPHA:168555
Variant Abeta2M Amyloidosis
Renal amyloidosis, Wrist pain, Multiple bony cystic lesions, Knee pain, Abnormal salivary gland m... ORPHA:314652
Timothy Syndrome
Hypocalcemia, Hypothyroidism, Syndactyly, Cardiomegaly, Cutaneous syndactyly OMIM:601005
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250