Registered for phenotyping at IMPC

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

Gene Summary

gulonolactone (L-) oxidase
sfx,  L-gulono-gamma-lactone 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
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Progressive joint destruction, Prolonged bleeding following cir... ORPHA:169802
Congenital Factor Ii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... ORPHA:325
Hypocalcemic Vitamin D-Resistant Rickets
Bone pain, Recurrent fractures, Nephrolithiasis, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnor... ORPHA:93160
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Short ... ORPHA:172
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Elevated circulating par... OMIM:619073
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Hemophilia A
Joint hemorrhage, Joint swelling, Bleeding with minor or no trauma, Intracranial hemorrhage, Intr... ORPHA:98878
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Congenital Factor Xiii Deficiency
Joint hemorrhage, Persistent bleeding after trauma, Hepatic failure, Prolonged bleeding after den... ORPHA:331
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop... ORPHA:157215
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Hyperlipidemia, Prolonged bleeding following circumcision, Bruising susceptibil... ORPHA:35909
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sh... OMIM:619795
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... ORPHA:53
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Hip contracture, Subdural hemorrhage, Subcutaneous hemorrhage, ... ORPHA:169805
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Nephrolithiasis,... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Difficulty walk... OMIM:264700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Gait disturba... ORPHA:2501
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Femoral bowing, Genu valgum, Flattening of the ta... OMIM:307800
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemia, Postnatal growth retardat... ORPHA:93324
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... ORPHA:1802
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Difficulty walk... OMIM:277440
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... OMIM:263300
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Difficulty walk... ORPHA:289157
Dent Disease 1
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... OMIM:300009
Congenital Factor Vii Deficiency
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Intracranial hemorrhage, Menor... ORPHA:327
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Osteomyelitis, Hepatomegal... OMIM:259700
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Decreased HDL... OMIM:615703
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Intramuscular hematoma... OMIM:227500
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Diarrhea, Autoimmune thromboc... ORPHA:324636
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Spinal rigidity, Flexion contracture, Elevated circulating creatine kinase concentr... OMIM:615883
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... ORPHA:99879
Bleeding Disorder In Hemophilia A Carriers
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Abnormal bleeding, Prolonged b... ORPHA:177926
Quebec Platelet Disorder
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:601709
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... OMIM:173470
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea... OMIM:156400
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... ORPHA:417
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Growth delay, Hypocalcemia, Hypophosphatemia, Osteomalacia, Iron deficiency a... ORPHA:89937
Congenital Factor Xi Deficiency
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... ORPHA:329
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Alopecia, Splenomegaly, Growth delay, Anemia, Lymphadenopathy ORPHA:100025
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Osteoarthritis, Gast... OMIM:306800
Renal Tubular Acidosis Iii
Periodic paralysis, Osteomalacia, Rickets OMIM:267200
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Hemophilia B
Joint hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Osteoarthritis, Gastrointe... OMIM:306900
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule... OMIM:268315
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... ORPHA:249
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Intramuscular hematoma... OMIM:227600
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Kenny-Caffey Syndrome, Type 1
Short palm, Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Small hand, Birth length... OMIM:244460
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... OMIM:231200
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increa... ORPHA:94089
Oncogenic Osteomalacia
Renal phosphate wasting, Abnormality of femur morphology, Tibial bowing, Hypocalcemia, Hypophosph... ORPHA:352540
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Rickets, Corneal crystals OMIM:219900
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Fai... OMIM:239200
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Hypertrig... OMIM:612526
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Abdominal distention, Abdominal pain, Feeding difficulties in infancy, I... ORPHA:2924
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Hemophilia A
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Muscle hemorrhage, O... OMIM:306700
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo... ORPHA:2198
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus, Pigmentary retinopathy, Osteoporosis, Rickets OMIM:560000
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... OMIM:137560
Oculoskeletodental Syndrome
Low anterior hairline, Hepatomegaly, Hypocalcemia, Splenomegaly, Renal agenesis, Short stature, S... OMIM:618440
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Difficulty walk... ORPHA:99642
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retardation, Failure... OMIM:232700
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Short stature, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduri... OMIM:613388
Mccune-Albright Syndrome
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Accelerated skeleta... ORPHA:562
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney, Sco... ORPHA:2611
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, O... OMIM:603233
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hypophosphatasia, Infantile
Bowing of the legs, Disproportionate short-limb short stature, Metaphyseal cupping, Failure to th... OMIM:241500
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... ORPHA:213
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Increased s... OMIM:612287
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Distal renal tubul... OMIM:179800
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... ORPHA:1652
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Failure to thrive, Beaking of vertebral bodies, Kyphoscoliosis, Short sta... ORPHA:93359
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Broad-based gait, Recurrent fractures, Inability to walk, Osteopenia, Spasticity OMIM:619884
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Elevated circ... OMIM:612089
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... OMIM:614732
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... OMIM:612286
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Monosomy 5P
Recurrent fractures, Short stature, Small hand, Short neck, Scoliosis, Abnormality of bone minera... ORPHA:281
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Epistaxis OMIM:605735
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Severe intrauterine growth retardation, Hypocalcemia, Decreased response to growth hormone stimul... OMIM:241410
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Paralysis, Paresis of extensor muscles of the big toe OMIM:608634
Hypercholanemia, Familial 1
Rickets OMIM:607748
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Micropenis, Short stature, Flared metaphysis, Brachydactyly, Sle... OMIM:602361
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Sitosterolemia 1
Episodic hemolytic anemia, Abdominal pain, Splenomegaly, Abnormal bleeding, Coronary artery ather... OMIM:210250
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Cone-shaped epiphysis, Abnormality of bone mineral d... ORPHA:3156
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Bruck Syndrome 1
Hip contracture, Coxa vara, Kyphosis, Short stature, Platyspondyly, Scoliosis, Osteoporosis, Prot... OMIM:259450
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hepatomegaly, Coarse hair, Short neck, Enlarged kidney, Long eyelashes, Protei... OMIM:617303
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... OMIM:618889
Flynn-Aird Syndrome
Joint stiffness, Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Catara... OMIM:136300
Factors Viii, Ix And Xi, Combined Deficiency Of
Joint hemorrhage, Joint dislocation, Ecchymosis, Bruising susceptibility OMIM:134520
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... ORPHA:488650
Fanconi-Bickel Syndrome
Failure to thrive, Growth delay, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Increase... ORPHA:2088
Aggressive Systemic Mastocytosis
Abdominal cramps, Diarrhea, Increased proportion of CD25+ mast cells, Osteolysis, Pancytopenia, G... ORPHA:98850
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Dengue Fever
Petechiae, Cerebral hemorrhage, Hypoproteinemia, Bruising susceptibility, Abdominal pain, Leukope... ORPHA:99828
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... OMIM:609052
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... OMIM:619658
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f... ORPHA:557003
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Short stature, Osteomala... OMIM:134600
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... OMIM:144300
X-Linked Hypophosphatemia
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Red... ORPHA:89936
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... OMIM:156530
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Increased su... OMIM:130060
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Lymphangioma, Enlarged kidney, Abnormal humerus morphology, Oste... ORPHA:464329
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses OMIM:264010
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S... OMIM:610967
X-Linked Agammaglobulinemia
Failure to thrive, Osteomyelitis, Hypocalcemia, Alopecia, Short stature, Abnormality of the lymph... ORPHA:47
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis OMIM:256720
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614882
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Pseudohypoparathyroidism, Type Ia
Short toe, Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydacty... OMIM:103580
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Pulmonary embolism, Prolonged bleeding time, Microcytic anemia,... ORPHA:90308
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Cataract ORPHA:1766
Cartilage-Hair Hypoplasia
Hepatomegaly, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, Accelerated skeletal ma... ORPHA:175
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Hypocalcemia OMIM:615361
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Long eyelashes, Hypogonadism, Growt... ORPHA:163693
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Short neck, Brachydactyly, Osteopo... OMIM:612462
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Coxa valga, Osteopenia, Osteomalacia, Osteoporosis, Avascular necrosi... ORPHA:1901
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Ulna Metaphyseal Dysplasia Syndrome
Wrist pain, Abnormality of the vertebral column, Hypercalcemia, Delayed skeletal maturation, Coxa... OMIM:191420
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Cataract ORPHA:2815
Sanjad-Sakati Syndrome
Hypoparathyroidism, Severe intrauterine growth retardation, Spinal canal stenosis, Hypocalcemia, ... ORPHA:2323
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hypocalcemia, Severe short stature, Increased bone mineral density, Short sta... OMIM:127000
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... ORPHA:93314
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Growth delay, Retinal telangiectasia, Osteopenia, Esophageal varix, Portal hypertension, Pancytop... OMIM:617341
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Severe short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Rhi... OMIM:301014
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Diarrhea, Hypertriglyceridemia, Esophageal varix, Hypercholesterol... ORPHA:75234
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Intervertebral space n... ORPHA:166011
Metatropic Dysplasia
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... ORPHA:2635
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Recurrent fractures, Craniosynostosis, Short stature, Hypercalcemia, Bowing of the long bones, Ab... ORPHA:436
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Pathologic fracture OMIM:614569
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Calvarial hyperostosis, Short stature, Elevated circulatin... ORPHA:52430
Thrombocytopenia 1
Joint hemorrhage, Petechiae, Bruising susceptibility, Congenital thrombocytopenia, Decreased mean... OMIM:313900
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Bullet-shaped phalanges ... OMIM:252500
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... ORPHA:970
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Splenomegaly, Decreased HDL c... OMIM:278000
Hypophosphatemic Rickets
Periapical tooth abscess, Elevated circulating parathyroid hormone level, Hypocalciuria, Enthesit... ORPHA:437
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Premature coronary artery atherosclerosis, Decreased circulating apolipoprotein AI concentration,... OMIM:620058
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Splenomegaly, Abnormal bleeding, Osteoporosis, Gastrointestinal... ORPHA:79301
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Renal hypophosphatemia, Enthesitis, Sclerotic vertebral endplates, Rickets of t... ORPHA:289176
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Short stature, Glycosuria, Large for gestational a... OMIM:616026
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropath... OMIM:615863
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia ORPHA:231393
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Calcium nephrolithia... ORPHA:36913
Majeed Syndrome
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral ... ORPHA:77297
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... ORPHA:2410
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Scler... OMIM:611490
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature... ORPHA:3409
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Ollier Disease
Bone pain, Joint stiffness, Lymphangioma, Precocious puberty, Platyspondyly, Osteolysis, Abnormal... ORPHA:296
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... OMIM:603813
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... ORPHA:79444
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Increased spinal bone density, Gait disturbance, Spastic gait, Bone pain ORPHA:329475
Erythrocytosis, Familial, 2
Failure to thrive, Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red ... OMIM:263400
H Syndrome
Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Hypogonadism, Delayed skeletal maturation,... ORPHA:168569
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal... ORPHA:2788
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Delayed ossification of carpal bones, Retinal detachment, Short phalanx of finge... OMIM:127200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Blue Rubber Bleb Nevus
Arteriovenous malformation, Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions,... ORPHA:1059
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... ORPHA:85198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Ataxia, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Platyspondyly OMIM:618476
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Stage 3 chronic kidney disease, Enure... OMIM:619743
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Splenomegaly, Short stature, Abnormality of the uri... ORPHA:2204
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur,... OMIM:602080
Temple Syndrome
Intrauterine growth retardation, Joint hypermobility, Feeding difficulties, Small for gestational... OMIM:616222
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Glanzmann Thrombasthenia
Prolonged bleeding following circumcision, Bruising susceptibility, Menorrhagia, Prolonged bleedi... ORPHA:849
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis ORPHA:101041
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular f... OMIM:618728
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis ORPHA:98881
Glycerol Kinase Deficiency
Adrenal insufficiency, Short stature, Small for gestational age, Increased urinary glycerol, Oste... OMIM:307030
Abnormal muscle fiber morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Anorexia... ORPHA:732
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Takayasu Arteritis
Hypertrophic cardiomyopathy, Anorexia, Cerebral ischemia, Vasculitis, Arthritis, Myocardial infar... ORPHA:3287
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Cataract, Abnormality of extrapyramidal motor function OMIM:165300
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, H... ORPHA:93296
Chondroectodermal Dysplasia With Night Blindness
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Short stature, Osteopenia,... ORPHA:319195
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:203330
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Arthrit... ORPHA:85446
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short neck, Short... ORPHA:79443
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Short stature, Osteopenia, Femoral bowing, Scoliosis, Increased susceptibili... OMIM:615066
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormal bleeding, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Disproportionate short-limb short stature, Kyphosis, Decreased calvarial oss... OMIM:259440
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia, Dilated cardiomyopathy OMIM:611283
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Hyperparathyroidism, ... ORPHA:2668
Erythrocytosis, Familial, 1
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Acrodysostosis With Multiple Hormone Resistance
Accelerated skeletal maturation, Elevated circulating parathyroid hormone level, Cone-shaped epip... ORPHA:280651
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Mild postnat... OMIM:101800
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Platyspondyly, Abnormal ilium morphology, Disproportionate short-trunk short statu... ORPHA:163665
Maffucci Syndrome
Bone pain, Recurrent fractures, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Short s... ORPHA:163634
Brachydactylous Dwarfism, Mseleni Type
Short toe, Severe short stature, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormal... ORPHA:2619
Bleeding Disorder, Platelet-Type, 17
Petechiae, Absence of alpha granules, Bruising susceptibility, Abnormal bleeding, Prolonged bleed... OMIM:187900
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Hepatomegaly, Lumbar hyperl... OMIM:602557
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, Intussusception, Abdominal pain, Abno... ORPHA:79076
Rhabdoid Tumor
Neoplasm of the liver, Abdominal pain, Nausea and vomiting, Weight loss, Hypercalcemia, Internal ... ORPHA:69077
Gaisböck Syndrome
Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri... ORPHA:90041
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hematochezia, Thrombocytopenia, Osteolysis, Gastrointestinal hemorrhage, Osteolysis invol... ORPHA:464321
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Gastrointestinal he... ORPHA:85450
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stature, Platyspondyly, Bro... OMIM:609324
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Flexion contracture, Difficulty walking, Cataract, Spasticity OMIM:617393
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Abn... ORPHA:2370
Greenberg Dysplasia
Abnormal leukocyte morphology, Severe short-limb dwarfism, Abnormal bone ossification, Anterior r... ORPHA:1426
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Short stature, Increased total bilirubin, Conjugated hyperbiliru... OMIM:619868
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Short stature, Dec... OMIM:607616
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Bruising susceptibility, Hemothorax, Persistent bleeding after trauma OMIM:262850
Burkitt Lymphoma
Abdominal pain, Abnormality of the spleen, Intestinal obstruction, Decreased proportion of CD4-po... ORPHA:543
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Coombs-positive hemolytic anemia... OMIM:603909
Hyperparathyroidism 4
Nephrolithiasis, Parathyroid carcinoma, Osteopenia, Primary hyperparathyroidism, Hypercalcemia OMIM:617343
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Stroke, Bruising susceptibility... ORPHA:729
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Osteopetr... OMIM:259720
Autosomal Recessive Malignant Osteopetrosis
Bone pain, Recurrent fractures, Growth delay, Abnormality of hair texture, Hepatomegaly, Hypophos... ORPHA:667
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Leukocytosis, Left ventricular hypertrophy, Vomiting,... ORPHA:90065
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Vertebral segmentation defect, Unossified sacrum, Nephrogenic rest, Tracheomalacia, Abnormal live... OMIM:608022
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Bruising susceptibility, Arrhythmia, Joint hypermobility, Gastrointestinal hemorrhage, Sk... ORPHA:230839
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Celiac Disease, Susceptibility To, 1
Thyroiditis, Ataxia, Hypocalcemia, Failure to thrive, Alopecia, Short stature, Osteoporosis, Iron... OMIM:212750
Parathyroid Carcinoma
Pancreatitis, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Thyro... ORPHA:143
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia, Cachexia, Short neck, Tapered finger, Sandal gap, Intraut... ORPHA:1438
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis OMIM:602248
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Genu valgum, Proteinuria,... OMIM:219800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... OMIM:619398
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... ORPHA:2070
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Hepatic failure, Subarachnoid hemorrhage,... ORPHA:774
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Short stature, Platy... OMIM:604864
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Gaucher Disease Type 1
Hepatomegaly, Osteopenia, Hematuria, Osteolysis, Proteinuria, Pancytopenia, Delayed skeletal matu... ORPHA:77259
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Recurrent fractures, Failure to thrive, Kyphosis, Increased bone mineral densi... OMIM:239000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... OMIM:613673
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... ORPHA:2239
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... OMIM:606407
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... ORPHA:166277
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Fine hair, Postnatal grow... ORPHA:2324
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux OMIM:615923
Familial Expansile Osteolysis
Hydroxyprolinuria, Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones, B... OMIM:174810
Bruck Syndrome 2
Hydroxyprolinuria, Flexion contracture, Short stature, Osteopenia, Femoral bowing, Platyspondyly,... OMIM:609220
Angina pectoris, Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Increas... ORPHA:412
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Decreased prealbumin level, Type I diabetes mellitus, Failure to thrive in infancy, Abn... ORPHA:37042
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Epiphyseal dysplasia, Short stature, Coarse hair, Osteoporosis, Joint laxity OMIM:248010
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Caffey Disease
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... OMIM:114000
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... OMIM:239100
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Abnormal bleeding, Leukopenia, Hepatocellular carcinoma, Gastri... ORPHA:64743
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Diarrhea, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating g... ORPHA:247598
Lysosomal Acid Lipase Deficiency
Stroke, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Weight loss, Feeding ... ORPHA:275761
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Gorham-Stout Disease
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Lymphangioma, Abnorma... ORPHA:73
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis OMIM:616176
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalacia, Glycos... OMIM:227810
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Post-partum hemorrhage, Short stat... ORPHA:98870
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormality of the parathyroid morphology, Nephrolithiasis, Hypophosphatemia, Pancreatitis, Thyro... ORPHA:99880
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... ORPHA:209964
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Prot... OMIM:610968
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Hyperparathyroidism, Anemia OMIM:618107
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Nail dystrophy, Clubbing of finger... OMIM:175500
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Platyspondyly, Small epiphy... OMIM:184260
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Butterfly vertebrae, Micropenis, Hypoplasia of the radius, Hypos... OMIM:607143
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Short distal phalanx of finger, Generalized hirsutism, Hypocalcemia, Short st... ORPHA:1563
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... ORPHA:93325
Primary Fanconi Renotubular Syndrome
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... ORPHA:3337
Mantle Cell Lymphoma
Anorexia, Weight loss, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Short metacarpal, Osteoarthritis, Platyspon... ORPHA:93351
Spondylometaphyseal Dysplasia, Kozlowski Type
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... OMIM:184252
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Stroke, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hyperten... OMIM:615812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Tapered finger, Enlarged kidney, Elevated circulating creatinine concentration, Car... OMIM:608836
Al Amyloidosis
Abnormal P wave, Jaw claudication, Bruising susceptibility, Abdominal distention, Macroglossia, I... ORPHA:85443
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Wide anterior fontanel, Tibial bowing, Disproportionate short-limb short sta... OMIM:259420
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepatosplenomegaly, Limb... ORPHA:263501
Pearson Syndrome
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Glycosuria, Hypoplastic spleen, Proteinu... ORPHA:699
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... ORPHA:1525
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Renal phosphate wasting, Disproportionate short-limb short stature, Hypophosphatemia, Metaphyseal... OMIM:258480
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Sparse hair, Metaphyseal sclerosis, Short stature, Osteopenia, Scoliosis, Osteoporosis, S... OMIM:612199
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Flared metaphysis, Platyspondyly, Short middle phalanx of t... OMIM:156510
Bone pain, Hypercalcemia, Pathologic fracture ORPHA:55881
Multiple Myeloma
Bone pain, Nephrotic syndrome, Splenomegaly, Osteopenia, Hyperproteinemia, Nephropathy, Pathologi... ORPHA:29073
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp... OMIM:617994
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Infantile Myofibromatosis
Neoplasm of the pancreas, Bone cyst, Abnormality of the kidney, Osteolysis, Hypercalcemia, Abnorm... ORPHA:2591
Neu-Laxova Syndrome
Flexion contracture, Opisthotonus, Osteopenia, Osteomalacia, Osteoporosis, Micromelia, Large hand... ORPHA:2671
Bernard-Soulier Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Prolonged bleeding after dental extraction, Abno... ORPHA:274
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abn... ORPHA:457059
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Finger joint hypermobility, Osteopenia, Py... ORPHA:363705
Wilson Disease
Bone pain, Failure to thrive, Hepatomegaly, Acute hepatitis, Back pain, Splenomegaly, Cirrhosis, ... ORPHA:905
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirs... ORPHA:189427
Juvenile Nephropathic Cystinosis
Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubulopathy, Del... ORPHA:411634
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Short stat... ORPHA:2238
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... ORPHA:1822
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... ORPHA:1486
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Whipple Disease
Malabsorption, Abdominal pain, Splenomegaly, Anemia, Anorexia, Cachexia, Diarrhea, Myositis, Hypo... ORPHA:3452
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Cataract, Spasticity, Arthrogryposis multiplex congenita OMIM:212540
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Malnutrition, Dysphagia, Weight loss ORPHA:930
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary ... OMIM:235255
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary ... ORPHA:1655
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypo... OMIM:246700
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Reduced bone mineral density, Babinski sign, Spastic paraplegia, Tremor, Gait distu... ORPHA:83629
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Osteomyelitis, Bone cyst, Back pain, Abnormality of the lymphatic system, Osteoporosis, Pathologi... ORPHA:2583
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Short stature, Platyspondyly, Scoliosis, Osteopor... ORPHA:2771
Geroderma Osteodysplastica
Recurrent fractures, Growth delay, Abnormal bone ossification, Severe short stature, Beaking of v... ORPHA:2078
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Abdominal pain, Stomach cance... ORPHA:2869
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Joint dislocation, Anemia, Diarrhea, Rhizomelia, Weight loss, Patent ductus ar... ORPHA:1842
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum, Proportionate short statu... OMIM:608361
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... ORPHA:157965
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Dysmetria, Osteopenia, Optic atrophy, Tremor, Gait ataxia, Spasticity, Apraxia OMIM:617810
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Osteopetrosis With Renal Tubular Acidosis
Secondary hyperparathyroidism, Recurrent fractures, Nephrolithiasis, Hypocalcemia, Hepatomegaly, ... ORPHA:2785
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuri... ORPHA:79259
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Short stature, Hypopigmentation of hair, Platyspondyly, Osteoporosis, Albinism ORPHA:2786
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Spondylometaphyseal Dysplasia, Axial
Coxa vara, Narrow greater sciatic notch, Splenomegaly, Short stature, Platyspondyly, Scoliosis, S... OMIM:602271
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... OMIM:613982
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... ORPHA:1306
Wolman Disease
Abdominal distention, Steatorrhea, Splenomegaly, Hepatic failure, Cachexia, Esophageal varix, Mal... ORPHA:75233
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Joint hypermobility, Feeding difficulties, Hypercholesterolemia, Ob... ORPHA:254531
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Hypercholesterolemia OMIM:301033
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Short neck, Platyspondyly, Long eyelashes in irregular rows, Anterior... OMIM:255800
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis, Paresis of extensor muscles of the big toe OMIM:158590
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, S... OMIM:231070
Hyperimmunoglobulinemia D With Periodic Fever
Growth delay, Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Arthritis, Intestinal obstructio... ORPHA:343
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Failure to thrive, Severe short stature, Osteopenia, Campto... ORPHA:2176
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Growth delay, Splenomegaly, Short stature, Elevated circulating creatine kinas... ORPHA:264580
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t... OMIM:313420
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Synostos... ORPHA:2741
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Decreased circulating ceruloplasmin concentration, Increased LDL choles... OMIM:616829
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Irregular vertebral endplates, Sclerosis of skull base, Abnormal metaphyseal trabeculation, Short... OMIM:224300
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... ORPHA:198
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal... ORPHA:97290
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Epiphyseal stippling OMIM:614876
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Abdominal pain, Splenomegaly, Reduced bone mineral density, Portal hypertension, ... ORPHA:1414
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Platyspondyly, Hematuria, Gen... ORPHA:534
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Large iliac wing, Abnormal hip bone morphology, Reduced bone mi... ORPHA:577
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Gait disturbance, Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... ORPHA:85435
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, ... OMIM:226980
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Martsolf Syndrome 2
Overlapping toe, Spastic diplegia, Camptodactyly of finger, Camptodactyly, Cataract, Developmenta... OMIM:619420
Familial Papillary Or Follicular Thyroid Carcinoma
Bone pain, Recurrent fractures, Abnormality of the lymph nodes, Chronic noninfectious lymphadenop... ORPHA:319487
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Myoclonus, Pa... OMIM:204200
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Eleva... OMIM:616828
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Growth Hormone Insensitivity Syndrome
Failure to thrive, Short stature, Truncal obesity, Hypercholesterolemia ORPHA:181393
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrichosis, Inability to walk, Short neck, Heparan sulfate excretion in urine, Enlarged kidne... ORPHA:505248
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Difficulty walking, Hyperphosphatemi... ORPHA:99845
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Rhizomelia, Intrauterine growth retardation, Disproportionate short-limb short stature, Spondylol... ORPHA:763
Decreased liver function, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy, Hypo... ORPHA:79319
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Talipes equinovarus, Paralysis OMIM:613710
Juvenile Paget Disease
Recurrent fractures, Short stature, Osteoporosis, Hyperuricemia, Bowing of the long bones, Coarse... ORPHA:2801
Osteootohepatoenteric Syndrome
Recurrent fractures, Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Grade II v... OMIM:619377
Tyrosinemia, Type I
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprote... OMIM:276700
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, ... OMIM:126550
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa vara, Bowing of the legs, Disproportionate short-limb short stature, Bo... OMIM:619131
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Disproportionate short-limb short stature, Lumbar hyperlordosis, Metaphyseal ... OMIM:608728
Chylomicron Retention Disease
Failure to thrive, Abdominal distention, Steatorrhea, EMG: myopathic abnormalities, Diarrhea, Vom... ORPHA:71
Rhyns Syndrome
Rod-cone dystrophy, Osteopenia, Hypoplastic ilia, Abnormal long bone morphology, Abnormal acetabu... ORPHA:140976
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Postnatal growth retardation, Splenomegaly, Short stature, Elevated circulating creatine kinase c... ORPHA:79240
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Ataxia, Hep... OMIM:256810
Waldenström Macroglobulinemia
Malabsorption, Stroke, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Retinal hemorrhage, V... ORPHA:33226
Cardiac arrest, Constipation, Abdominal pain, Splenomegaly, Diarrhea, Arrhythmia, Gastrointestina... ORPHA:99745
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirs... ORPHA:189439
Congenital Disorder Of Glycosylation, Type Iin
Inability to walk, Craniosynostosis, Osteopenia, Astigmatism, Joint hypermobility OMIM:616721
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture, Bo... ORPHA:85193
Transaldolase Deficiency
Telangiectasia, Hepatosplenomegaly, Coarctation of aorta, Abnormal circulating glutamine concentr... ORPHA:101028
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Hypothyroidism, Cardiomegaly OMIM:601005
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... OMIM:619489
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Platyspondyly,... OMIM:234250
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Hypertension, Weakness of facial musculature, Retinal neovascularization, Nor... ORPHA:247691
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Kyphosis, Femoral bowing present at birth, straightening with time, Reduced ... OMIM:166220
Kniest Dysplasia
Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplastic pelvis, Rhizom... OMIM:156550
Schimke Immunoosseous Dysplasia
Osteopenia, Coarse hair, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, ... OMIM:242900
Ck Syndrome
Slender build, Kyphosis, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint hypermobility... OMIM:300831
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Osteopenia, Abnormality of the pubic bone, Micromelia, Spasticity,... ORPHA:2636
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Sea-blue histiocytosis, Ataxia, Hepatomegaly, Failure to thrive, Beaking of vert... OMIM:230600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Ebola Hemorrhagic Fever
Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Leukopenia, Diarrhea, Vomiting, Nausea, D... ORPHA:319218
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Inflammation of the large i... ORPHA:324964
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the rectum, Constipation, Gastrointestina... ORPHA:44890
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Limb-girdle muscle weakness, Splenomegaly, Elevated circulating creatine kinas... ORPHA:370
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Limitation of joint mobility, M... ORPHA:93672
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Craniosynostosis, Osteopenia, Eosinophilia, Scoliosis, Joint hypermobility, ... OMIM:147060
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Marshall-Smith Syndrome
Failure to thrive, Generalized hirsutism, Accelerated skeletal maturation, Reduced bone mineral d... ORPHA:561
Schimmelpenning-Feuerstein-Mims Syndrome
Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Abnormality of finger, Abnorma... OMIM:163200
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Short stature, Flared m... OMIM:601561
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F... OMIM:612561
Cryoglobulinemic Vasculitis
Petechiae, Abdominal pain, Splenomegaly, Vasculitis, Arthritis, Gastrointestinal infarctions, Pur... ORPHA:91138
Dyggve-Melchior-Clausen Disease
Inability to walk, Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femor... ORPHA:239
Hypervitaminosis A, Susceptibility To
Lower limb pain, Alopecia totalis, Renal insufficiency, Hypercalcemia, Abnormality of the liver OMIM:240150
Variant Abeta2M Amyloidosis
Chronic kidney disease, Hepatic amyloidosis, Wrist pain, Arthralgia of the hip, Abnormal salivary... ORPHA:314652
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Abnormal bleeding, Tachycardi... ORPHA:35858
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Intention tremor, Camptodactyly of finger, Abnormal pyramidal sign, Osteoporos... ORPHA:48431
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Stroke, Restrictive cardiomyopathy, ... OMIM:264800
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382