Gene Summary

Name:
SUN domain containing ossification factor
Synonyms:
osteopotentia,  Opt,  AI848100

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Sucoem1(IMPC)Bay HOM   Early adult 0.00

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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.

Eye Morphology

VIP of left eye

8 Images

Eye Morphology

VIP of right eye

3 Images

Eye Morphology

VIP of left fundus

9 Images

Human diseases caused by Suco 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 Suco by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Joint stiffness, Thickened cort... ORPHA:564003
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Wormian bones, Osteopenia, Recurrent fractures, Multiple prenat... OMIM:610915
Mazabraud Syndrome
Bone pain, Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Hype... ORPHA:1879
Succinic Acidemia
Respiratory distress OMIM:600335
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Wormian bones, Abnormality of epiphysis morphology, Tapered finger,... ORPHA:970
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures, Hip dislocation, Hip subluxation OMIM:256720
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Premature osteoarthritis, Osteopenia, Joint subluxation, Joint laxity, M... OMIM:130060
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Toe clinodactyly, Dolichocephaly, Upper limb undergrowth, Short stature, Pathologi... ORPHA:166277
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Diaphyseal thickening, Generalized osteosclerosi... ORPHA:2790
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:600081
Osteoporosis-Pseudoglioma Syndrome
Wormian bones, Osteopenia, Abnormal lower limb bone morphology, Joint laxity, Loss of ability to ... ORPHA:2788
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Osteomalacia, Bone pain, Rickets, Enlargement of the wrists, Hypocalcemia, Short stat... ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Fibular bowing, Bone pain, Rickets, Bowing of the legs, Enlargement of the wrists, Flat occiput, ... OMIM:264700
Monosomy 5P
Finger syndactyly, Intrauterine growth retardation, Recurrent fractures, Short stature, Small han... ORPHA:281
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Fibular bowing, Bone pain, Rickets, Bowing of the legs, Enlargement of ... OMIM:241530
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Dolichocephaly, Nephrolithiasis, A... ORPHA:93160
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Abnormality of long bone morphology, Increased susceptibility to fractu... ORPHA:52430
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic gait, Recurrent fractures, Gait disturbance, Bone pain, Increased spinal bone density ORPHA:329475
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Knee pain, Genu varum, Bowing of the long bones, Bulging epiphyses, Metaphyseal irregularity, Spa... OMIM:600785
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Splenomegaly, Short stature,... ORPHA:2204
Vitamin D-Dependent Rickets, Type 2A
Fibular bowing, Bone pain, Rickets, Bowing of the legs, Enlargement of the wrists, Flat occiput, ... OMIM:277440
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Severe short stature, Clinodactyly of the 5th ... ORPHA:2635
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Decreased calvarial ossification, Craniosynostosis, Bowing of the ... OMIM:241500
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Arthritis, Osteoarthritis, Abnormality of the knee, Large f... ORPHA:1525
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Bone pain, Abnormal bone ossi... ORPHA:73
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Clinodactyly of the 3rd toe, Dolichocephaly, Delayed closure of the anterior fonta... OMIM:604922
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Dysmetria, Intrauterine growth retardation, Intentio... ORPHA:48431
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Delayed puberty, Osteoporosis, Secondary growth hormone deficiency, Short st... ORPHA:2410
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Familial Expansile Osteolysis
Bowing of the long bones, Hydroxyprolinuria, Thin bony cortex, Osteolysis, Pathologic fracture, B... OMIM:174810
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Gait disturbance, Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Hypocalcemia, Avascular necrosis, Osteo... ORPHA:53
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormality of epiph... ORPHA:1306
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Wormian bones, Disproportionate short-limb short stature, Multi... OMIM:259410
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Enlarged joints, Recurrent fractures, Joint laxity, Osteoporosis, Short stature, Epiphyseal dyspl... OMIM:248010
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Osteomalacia, Fibular bowing, Bone pain, Rickets, Bowing of the legs, N... OMIM:300554
Lichtenstein Syndrome
Metacarpophalangeal joint contracture, Increased susceptibility to fractures, Osteoporosis, Decre... OMIM:246550
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Decreased calvarial ossification, Wormian bones, Disproportion... OMIM:259420
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, 2-3 toe syndactyly, Midface retrusion, Frontal bossing, Postnata... ORPHA:2324
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Wormian bones, Osteoporosis, Short distal phalanx of finger, Frontal bossing, Join... ORPHA:2787
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Recurrent fractures, Short stature, Slender long bone, Abnormal cor... ORPHA:1486
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Osteoporosis, Growth delay, Increased urinary glycerol, Fron... OMIM:307030
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Wormian bones, Abnormality of pelvic girdle bone morphology, Osteope... OMIM:610967
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Craniofacial hyperostosis, Cone-shaped epiphyses of the pha... ORPHA:2484
Shashi-Pena Syndrome
Accelerated skeletal maturation, Hypoglycemia, Osteoporosis OMIM:617190
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Erlenmeyer flask deformity of the femurs, Increased susc... ORPHA:210110
Dent Disease 1
Glycosuria, Osteomalacia, Microscopic hematuria, Fibular bowing, Bone pain, Stage 5 chronic kidne... OMIM:300009
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Osteoporosis, Polycystic kidney dysplasia, Meta... OMIM:184260
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bruck Syndrome 1
Pterygium, Joint laxity, Increased susceptibility to fractures, Osteoporosis, Ankle flexion contr... OMIM:259450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Osteopenia, Hyperlipidemia, Proteinuria, Hypertrophic cardiomyopathy, Osteoporosis,... ORPHA:369
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Growth delay, Hype... ORPHA:157215
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaph... OMIM:166260
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Abnormality of the ureter, Recurrent fractures, Abnormality of epi... ORPHA:3409
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Juvenile Paget Disease
Cranial hyperostosis, Bowing of the long bones, Recurrent fractures, Osteoporosis, Hyperuricemia,... ORPHA:2801
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Flared elbow metaphyses, Generalized osteosclerosis, Respiratory... ORPHA:1423
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Bruck Syndrome 2
Wormian bones, Flexion contracture, Osteopenia, Pterygium, Increased susceptibility to fractures,... OMIM:609220
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Severe short sta... ORPHA:3344
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Pterygium, Carpal osteolysis, Osteolysis involving bones of... ORPHA:371428
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Osteoma... ORPHA:249
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin b... ORPHA:85184
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Craniosynostosis, Osteopenia, Recurrent fractures, Cutaneous a... OMIM:147060
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Cholesterol Pneumonia
Death in infancy, Tachypnea, Pneumonia, Cough OMIM:215030
Pycnodysostosis
Brachydactyly, Prominent occiput, Wormian bones, Abnormality of pelvic girdle bone morphology, In... OMIM:265800
Caffey Disease
Cortical irregularity, Hyperesthesia, Respiratory insufficiency, Increased circulating antibody l... ORPHA:1310
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Chondrocalcinosis, Arth... OMIM:146300
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Disproportionate short-limb short st... OMIM:166210
Pycnodysostosis
Hypoplastic iliac wing, Small hand, Decreased response to growth hormone stimulation test, Brachy... ORPHA:763
Stuve-Wiedemann Syndrome 1
Osteoporosis, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Thickened cortex of... OMIM:601559
Osteogenesis Imperfecta, Type Xix
Severe short stature, Osteopenia, Recurrent fractures, Rhizomelia OMIM:301014
Pachydermoperiostosis
Genu varum, Gastrointestinal hemorrhage, Abnormality of epiphysis morphology, Arthritis, Limitati... ORPHA:2796
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypoglycemia, Osteopenia, Panhypopitui... ORPHA:95619
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Patent ductus arteriosus, Delayed closure of the anterior fontanelle, ... OMIM:614886
Hypophosphatasia
Emphysema, Bowing of the long bones, Craniosynostosis, Recurrent fractures, Hypercalcemia, Anemia... ORPHA:436
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Sudden cardiac death, Myocardial infarction, ... OMIM:610947
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Short stature, Femoral bo... OMIM:615066
Osteosarcoma
Abnormality of the metaphysis, Osteolysis, Abnormality of the femoral metaphysis, Pathologic frac... ORPHA:668
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Growth delay, Short stature, Abnormal cortical bone morphology, Vesico... ORPHA:2512
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Wormian bones, Disproportionate short-limb short stature, Recur... OMIM:259440
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Bruck Syndrome
Bowing of the long bones, Wormian bones, Joint stiffness, Recurrent fractures, Pterygium, Osteopo... ORPHA:2771
Proteus Syndrome
Dolichocephaly, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Cal... OMIM:176920
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Hypoglycemia, Intrauterine growth retardation, Insulin resistance, Severe postnatal... ORPHA:73272
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Osteopenia, Intrauterine growth retardation, Dystonia, Metaphyseal scle... OMIM:612199
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Delayed puberty, Growth delay, Midface retrusion, Short stature, Decreased serum in... ORPHA:314802
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Short long bone, Osteopenia, Nephrocalcinosis, Hypercalcemia, Severe sh... OMIM:156400
Classic Galactosemia
Hypoglycemia, Dystonia, Action tremor, Delayed puberty, Osteoporosis, Ataxia, Decreased serum ins... ORPHA:79239
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Abnormality of epiphysis morphology, Radioulnar dislocation, Dislocated radial head, Joint laxity... ORPHA:93359
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteopenia, Enlarged epiphyses, Osteoporosis, Short stature, Camptodactyly, Joint contracture of ... OMIM:264010
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Achondrogenesis Type 1A
Short palm, Recurrent fractures, Abnormal enchondral ossification, Severe short stature, Frontal ... ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Dysosteosclerosis
Narrow iliac wing, Clavicular sclerosis, Osteopenia, Progressive bowing of long bones, Short ster... OMIM:224300
Dent Disease
Glycosuria, Proteinuria, Enlarged epiphyses, Osteomalacia, Bone pain, Renal hypophosphatemia, Ric... ORPHA:1652
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Urinary incontinence, Bone cyst, Pathologic fracture OMIM:221770
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Variant Abeta2M Amyloidosis
Knee pain, Wrist pain, Reduced ejection fraction, Multiple bony cystic lesions, Chronic kidney di... ORPHA:314652
Mycetoma
Painless fractures due to injury, Abnormality of forearm bone, Abnormal bone structure, Osteoporo... ORPHA:2583
Kniest Dysplasia
Enlarged joints, Tracheomalacia, Disproportionate short-trunk short stature, Midface retrusion, F... OMIM:156550
Stüve-Wiedemann Syndrome
Hypothyroidism, Camptodactyly of finger, Osteoporosis, Metaphyseal widening, Genu valgum, Bowing ... ORPHA:3206
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Avascular necrosis, Anemia, Bone pain, Hypersplenism, Thrombocytopenia... ORPHA:77259
Perching Syndrome
Respiratory distress OMIM:617055
Propionic Acidemia
Pancytopenia, Hypoglycemia, Dystonia, Cerebellar hemorrhage, Hyperglycinuria, Tachypnea, Osteopor... OMIM:606054
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Recurrent fractures, Hypoplasi... ORPHA:2772
Majeed Syndrome
Metaphyseal irregularity, Flexion contracture, Increased bone mineral density, Congenital hypopla... ORPHA:77297
Infantile Systemic Hyalinosis
Brachydactyly, Joint stiffness, Osteopenia, Recurrent fractures, Short palm, Severe short stature... ORPHA:2176
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respiratory distres... ORPHA:91359
Menkes Disease
Wormian bones, Intrauterine growth retardation, Joint laxity, Metaphyseal spurs, Decreased circul... OMIM:309400
Beta-Thalassemia Intermedia
Hypothyroidism, Osteoporosis, Abnormality of iron homeostasis, Diabetes mellitus, Persistence of ... ORPHA:231222
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Femoral bowing, Thin bony ... OMIM:619638
Maffucci Syndrome
Recurrent fractures, Neoplasm of the adrenal cortex, Parathyroid adenoma, Growth delay, Short sta... ORPHA:163634
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Hypocalcemic seizures, Intrauterine growth retardation, Hypocalcemia, D... ORPHA:93324
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Bowing of the arm, Wormian bones, Coxa valga, Recurrent fractures, Osteoporos... OMIM:619131
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Marshall-Smith Syndrome
Accelerated skeletal maturation, Bowing of the long bones, Bruising susceptibility, Craniosynosto... ORPHA:561
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Osteomalacia, Rickets ... ORPHA:289176
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Decreased fibular diameter, Arachnodactyly, Fasting hyperinsulinemia, Long ... OMIM:619489
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Short stature, Contractures of the large joints, Postnatal growth retardation, Osteoporosis OMIM:608278
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Hypocalcemia, Abnormality of fib... ORPHA:352540
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Wormian bones, Osteoporosis, Midface retrusion, Short stature, Brachytu... OMIM:613849
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... ORPHA:417
Osteogenesis Imperfecta, Type Iv
Wormian bones, Recurrent fractures, Increased susceptibility to fractures, Short stature, Femoral... OMIM:166220
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Osteopenia, Flexion contracture, Multiple prenatal fractures, Intrauterine growth ... OMIM:616897
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal bone structure, Avascular necrosis, Multiple bony c... ORPHA:83451
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Abnormality of cranial sutures, Coxa valga, Increased bone m... ORPHA:163649
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Delayed puberty, Growth delay, Short stature, Decreased serum insulin-like growth f... ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Splenomegaly, Anemia, Hyperparathyroidism, Thickened calvaria OMIM:618107
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Abnormal joint morphology, Moderate generalized osteoporosis OMIM:166230
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Metopic synostosis, Camptodactyly of toe, Broad hallux, Postaxial ... OMIM:175700
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Cardiomyopathy, Familial Hypertrophic, 15
Dyspnea OMIM:613255
Tenorio Syndrome
Apnea, Hypoglycemia, Osteopenia, Pneumonia, Delayed cranial suture closure, Gait disturbance, Syn... OMIM:616260
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Abnormality of epiphysis morphology, Goiter, Br... ORPHA:226313
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Abnormal bone ossification, Disproportionate short-trunk short stature,... ORPHA:93315
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Narrow pelvis bone, Respiratory distress, Abnormal... ORPHA:66637
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Hypocalcemia, Spl... OMIM:259700
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Bruising susceptibility, Recurrent fractures, Joint hypermobility, Short stature, Recurrent joint... OMIM:619115
Autosomal Recessive Cutis Laxa Type 2A
Dystonia, Intrauterine growth retardation, Congenital hip dislocation, Athetosis, Increased susce... ORPHA:357058
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Increased susceptibility to fractures, Protrusio acetabuli, Short statu... OMIM:610968
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Gastrointestinal hemorrhage, He... ORPHA:98850
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Bruising susceptibility, Hyperlipidemia, Abnormal response to corticotropin releasing hormone sti... ORPHA:189427
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Osteoporosis, Rib osteolysis, Right bundle branch block, Hypertension, Mitral ... OMIM:614008
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Metaphyseal irregularity, Osteopenia, Osteoporosis, Gait disturbance... ORPHA:319195
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Dystonia, Central hypothyroidism, Ataxia, Short stature, Postnatal growth retardati... OMIM:616113
Primary Pigmented Nodular Adrenocortical Disease
Bruising susceptibility, Hyperlipidemia, Nephrolithiasis, Increased urinary cortisol level, Incre... ORPHA:189439
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormal hip bone morphology, Slender finger, Osteopenia, Micropenis, Clinodactyly of the 5th fin... ORPHA:251028
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Hematuria, Proteinuria, Avascular necrosis, Increas... ORPHA:77261
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Reduced bone mineral density, Neoplasm of the thyroid gland, Recurrent fractures, Congestive hear... ORPHA:137608
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Fractures of the long bones, Abnormality of pelvic girdle bone morpholo... OMIM:602080
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Nephrolithiasis, Increased susceptibility to fractures, Osteoporosis, Hyperphosphatur... OMIM:612287
Osteogenesis Imperfecta, Type I
Bruising susceptibility, Wormian bones, Osteopenia, Recurrent fractures, Increased susceptibility... OMIM:166200
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Recurrent fractures, Joint lax... OMIM:617952
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Recurrent fractures, Severe short stature, Tibial bowing, Osteoporosis... OMIM:231070
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Growth delay, Anemia, Osteopetr... OMIM:611490
Pleural Mesothelioma
Abnormal respiratory system physiology, Pleural effusion, Cough, Dyspnea, Respiratory distress ORPHA:50251
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Nephrolithiasis, Hypercalciuria, Increased susceptibility to fractures, Osteoporosis,... OMIM:612286
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Severe short stature, Osteoporosis, Femoral bowing, Thickened ca... OMIM:126550
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound, Crackles,... ORPHA:1302
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Abnormality of limb bone morphology, Delayed closure of the anterior fontanelle, Ep... ORPHA:251009
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Impaired vibratory sensation, Inability to walk, Progressive cerebel... ORPHA:2596
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hypothyroidism, Proteinuria, Chronic neutropenia, Osteoporos... ORPHA:79259
Osteogenesis Imperfecta
Prominent occiput, Fractures of the long bones, Abnormal hip bone morphology, Loss of ability to ... ORPHA:666
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Osteopenia, Multiple prenatal fractures, Rocker bottom foot, Congenital hip ... OMIM:271225
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Wormian bones, Osteopenia, Intrauterine growth retardation, Aortic reg... OMIM:616603
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Hip dislocation, Recurrent pneumonia, Aortic regurgitation, Congestive hear... OMIM:252500
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Short stature, Ab... ORPHA:1782
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Recurrent fractures, Increased bone mineral density, Hyperc... OMIM:239000
Mastocytosis
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Recurrent fractures, Hypercalcemia, ... ORPHA:98292
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Flexion contracture, Rocker bottom foot, Mildly elevated creatine kinase, Ankle fl... ORPHA:1143
Prader-Willi Syndrome
Central hypothyroidism, Osteoporosis, Central adrenal insufficiency, Central sleep apnea, Hyperte... ORPHA:739
Geroderma Osteodysplastica
Recurrent fractures, Abnormality of epiphysis morphology, Severe short stature, Osteoporosis, Abn... ORPHA:2078
Caffey Disease
Cortical irregularity, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Gaucher Disease
Pancytopenia, Proteinuria, Avascular necrosis, Anemia, Arthrogryposis multiplex congenita, Bone p... ORPHA:355
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Hypoglycemia, Osteopenia, Flexion contracture, Intrauterine growth retardation, N... OMIM:618005
Cleidocranial Dysplasia
Short middle phalanx of the 2nd finger, Hypoplastic iliac wing, Wide pubic symphysis, Brachydacty... OMIM:119600
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Osteogenesis Imperfecta, Type Vii
Bowing of the legs, Decreased calvarial ossification, Wormian bones, Osteopenia, Recurrent fractu... OMIM:610682
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Brachydactyly, Increased bone mineral density, A... ORPHA:2658
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Dyspnea OMIM:613490
Idiopathic Juvenile Osteoporosis
Bone pain, Osteoporosis, Recurrent fractures, Gait disturbance ORPHA:85193
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Osteogenesis Imperfecta, Type Xiii
Wormian bones, Increased bone mineral density, Dislocated radial head, Osteoporosis, Joint hyperm... OMIM:614856
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Bruising susceptibility, Bowing of the legs, Osteopenia, Patchy oste... OMIM:112250
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Osteopenia, Intrauterine growth retardation, Hypoplasia of the capital f... OMIM:612394
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Increased susceptibility ... ORPHA:2769
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of toe, Osteopenia, Recurrent fractures, Horseshoe kidney, Hypophosphatemic rickets, ... OMIM:163200
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint stiffness, ... OMIM:208230
Hao-Fountain Syndrome
Micropenis, Clinodactyly of the 5th finger, Central sleep apnea, Large fontanelles, Delayed crani... OMIM:616863
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Osteoporosis, Gait disturbance, ... OMIM:259600
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Radial head subluxation, Agenesis of pineal gland, Sagittal craniosynos... ORPHA:536471
Hereditary Sensory And Autonomic Neuropathy Type 1
Trophic changes related to pain, Impaired distal tactile sensation, Inability to walk, Cough, Imp... ORPHA:36386
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Recurrent fractures, Chronic rhinitis, Hi... ORPHA:168569
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Midface retrusion, Frontal bossing, Sh... OMIM:112240
Greenberg Dysplasia
Multiple prenatal fractures, Pancreatic islet-cell hyperplasia, Decreased skull ossification, Abs... OMIM:215140
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Mccune-Albright Syndrome
Pancytopenia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Abnormality of the t... ORPHA:562
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hypoglycemia, Dystonia, Painless fractures due to injury, Increased susceptibility to fractures, ... OMIM:256810
Oculodentodigital Dysplasia
Clinodactyly, Hypoglycemia, Clinodactyly of the 5th finger, Neurogenic bladder, Brachydactyly, Ar... ORPHA:2710
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu varum, Irregular epiphyses, Joint stiffness, Recurrent frac... ORPHA:1822
Brittle Cornea Syndrome
Bruising susceptibility, Abnormality of epiphysis morphology, Increased susceptibility to fractur... ORPHA:90354
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Osteopenia, Midface retrusion, Osteolytic defects of the phalanges ... OMIM:601812
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femoral neck, Osteopo... OMIM:251450
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Decreased ... ORPHA:95717
Mccune-Albright Syndrome
Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Hyperthyroidism, Elevated circulating g... OMIM:174800
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Mehmo Syndrome
Hypoglycemia, Birth length less than 3rd percentile, Micropenis, Inability to walk, Gait ataxia, ... OMIM:300148
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Craniosynostosis, Recurrent fractures, Hypercalcemia, Proteinuria, Increased blo... ORPHA:251004
Osteoglophonic Dysplasia
Bowing of the long bones, Craniosynostosis, Short palm, Chordee, Short metacarpal, Rhizomelia, Sh... OMIM:166250
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Decreased DLCO, Cough, Dyspnea OMIM:234810
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Increased susc... ORPHA:2909
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tracheomalacia, Large joint dislocations, Osteoporosis, Hallux valgus, Metaphyseal widening, Hip ... ORPHA:536467
Glycogen Storage Disease Ia
Enlarged kidney, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular... OMIM:232200
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcem... OMIM:612301
Menkes Disease
Bowing of the long bones, Prominent occiput, Wormian bones, Hypoglycemia, Bladder diverticulum, R... ORPHA:565
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Hypoplasia of penis, ... ORPHA:181393
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Abnormal trabecular bone morphology, Metaphyseal sclerosis, Ane... ORPHA:221016
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Elevated circulating C-reactive protein concentration, Spl... OMIM:612852
Rothmund-Thomson Syndrome Type 1
Genu varum, Hypothyroidism, Finger symphalangism, Abnormal trabecular bone morphology, Metaphysea... ORPHA:221008
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Shoulder dislocation, Sandal gap, Bilateral elbow dislocations, Osteopo... OMIM:245600
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia, Ataxia OMIM:240800
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stim... OMIM:262400
Leukodystrophy, Hypomyelinating, 17
Short stature, Inability to walk, Flexion contracture, Respiratory distress OMIM:618006
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Patent ductus arteriosus, Upper limb undergrowth, Flat occiput, Splenomegaly, Ankle f... OMIM:608799
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Short thumb, Bulbous tips of toes, Irregular metacarpals, Sclerosis of skull base... OMIM:304120
Alg12-Cdg
Sandal gap, Clinodactyly of the 5th finger, Abnormal bone ossification, Prolonged prothrombin tim... ORPHA:79324
Fanconi-Bickel Syndrome
Glycosuria, Bowing of the long bones, Renal tubular acidosis, Fasting hypoglycemia, Osteopenia, N... ORPHA:2088
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Thickened calvaria,... OMIM:607634
Laron Syndrome
Brachydactyly, Hypoglycemia, Hypercholesterolemia, Severe short stature, Osteoarthritis, Hypoplas... ORPHA:633
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Shoulder dislocation, Action tremor, Dystonia, Athetosis, Prolonged prothrombin time, Sclerosis o... ORPHA:404454
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Cough, Atelectasis, Osteomyeliti... ORPHA:2314
Hyperparathyroidism, Transient Neonatal
Femoral bowing, Osteopenia, Respiratory distress OMIM:618188
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Hemochromatosis Type 2
Increased circulating ferritin concentration, Dilated cardiomyopathy, Osteoporosis, Elevated tran... ORPHA:79230
Glycogen Storage Disease Ib
Enlarged kidney, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular... OMIM:232220
Familial Dysautonomia
Orthostatic hypotension, Hyponatremia, Recurrent fractures, Impaired pain sensation, Avascular ne... ORPHA:1764
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Osteopenia, Coxa valga, Sclerosis of skull base, Flared metaphysis, Sh... OMIM:269300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Neonatal respiratory ... OMIM:610921
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Shwachman-Diamond Syndrome 1
Pancytopenia, Nephrocalcinosis, Metaphyseal sclerosis, Metaphyseal widening, Acute myeloid leukem... OMIM:260400
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dystonia, Intrauterine growth retardation, Elevated circulating acylcarniti... ORPHA:26792
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Antley-Bixler Syndrome
Craniosynostosis, Joint stiffness, Recurrent fractures, Arachnodactyly, Frontal bossing, Turricep... ORPHA:83
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Elevated circulat... OMIM:614399
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:478
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoac... OMIM:616026
Spondyloepiphyseal Dysplasia Congenita
Flattened epiphysis, Limitation of knee mobility, Restrictive ventilatory defect, Delayed pubic b... OMIM:183900
Odontochondrodysplasia
Bowing of the long bones, Coxa valga, Square pelvis bone, Patent ductus arteriosus, Short palm, C... ORPHA:166272
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Recurrent fractures, Tracheomalacia, Poorly ... ORPHA:140
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Flexion contracture, Joint stiffness, Hyperlipidemia, Hyperinsulinemia, Osteolytic... OMIM:248370
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Renal Fanconi syndrome, Hyperinsulinemia... ORPHA:263455
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Anterior rib punctate calcifications, Neonatal hypoglycemia, Flexi... ORPHA:35173
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Bruising susceptibility, Craniosynostosis, Recurrent fractures, Chronic... ORPHA:667
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Intrauterine growth retardation, Tracheomalacia, Hammert... OMIM:608022
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Contractures of the large joints, Elevated circulating creatine kinase concentration,... ORPHA:329178
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Severe short stature, Large iliac wing, Thickened calvaria, Facia... ORPHA:2780
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Delayed proximal femoral epiphyseal ossification, Reduced ra... ORPHA:95716
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Hypoglycemia, Delayed closure of the anterior fontanelle, Clinodactyly of ... ORPHA:231140
Al-Gazali Syndrome
Recurrent pneumonia, Osteopenia, Recurrent fractures, Hydronephrosis, Midface retrusion, Broad di... OMIM:609465
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Intrauterine growth retardati... OMIM:616733
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Radial head subluxation, Severe short stature, Osteoporosis, Hallux valgus, Me... OMIM:271640
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Proportionate short stature, Patent ductus arteriosus, Broad meta... OMIM:277600
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Neonatal hypoglycemia, Increas... ORPHA:324575
Frank-Ter Haar Syndrome
Bowing of the long bones, Cortical irregularity, Wormian bones, Osteopenia, Short palm, Short pha... OMIM:249420
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Osteoporosis, Thin bony cortex, Long hallux, Long fingers, Short stature, Hy... OMIM:309583
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Multiple suture craniosynostosis, Small anterior fontanelle,... ORPHA:3369
Craniofaciofrontodigital Syndrome
Finger joint hypermobility, Osteopenia, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart... ORPHA:363705
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Skull asymmetry, Craniosynostosis, Ataxia, Midface retrusion, Short stature, Turri... OMIM:601853
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Osteolytic defects of the d... OMIM:608612
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Osteoporosis, S... ORPHA:264580
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Cutaneous ... OMIM:619752
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Narrow iliac wing, Wormian bones, Osteopenia, Coronal craniosynostos... OMIM:616294
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Hypocalcemic seizures, Increased bone mineral density, Pseudohypoparathyroi... ORPHA:94089
Marbach-Rustad Progeroid Syndrome
Wormian bones, Intrauterine growth retardation, Insulin resistance, Intention tremor, Pulmonary i... OMIM:619322
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Hypothyroidism, Hypoglycemia, Slender finger, Intrauterine growth retardation, Seve... ORPHA:391408
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Generalized bon... ORPHA:199299
Mirage Syndrome
Hypoglycemia, Radial club hand, Anemia, Thrombocytopenia, Lymphopenia, Intracranial hemorrhage, P... OMIM:617053
Intermediate Nemaline Myopathy
Flexion contracture, Multiple prenatal fractures, Respiratory failure, Arthrogryposis multiplex c... ORPHA:171433
Cinca Syndrome
Brachydactyly, Leukocytosis, Delayed closure of the anterior fontanelle, Elevated circulating C-r... ORPHA:1451
Hajdu-Cheney Syndrome
Prominent occiput, Osteoporosis, Decreased skull ossification, Partial absence of toe, Patellar d... ORPHA:955
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Anemia, Metaphyseal widening, Thrombocytopenia, Recurrent pneumonia, Flexion contrac... OMIM:617303
Distal Renal Tubular Acidosis
Hypokalemia, Hypermagnesiuria, Hypocitraturia, Osteomalacia, Bone pain, Rickets, Nephrocalcinosis... ORPHA:18
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elevated circulating creatinine concentration, Nonketotic hypoglycemia, Hydronephro... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Hyperamylasemia, Hypertrophic cardiomyopathy... OMIM:619386
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Dyspnea, Bro... ORPHA:60033
Grange Syndrome
Short palm, Aortic regurgitation, Patent ductus arteriosus, Increased susceptibility to fractures... ORPHA:79094
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Accelerated skeletal maturation, Bowing of the long bones, Craniosynostosis, Flexion contracture,... OMIM:130070
Mucopolysaccharidosis Type 3
Urinary glycosaminoglycan excretion, Genu valgum, Hip dysplasia, Flexion contracture, Craniofacia... ORPHA:581
Roifman Syndrome
Brachydactyly, Eosinophilia, Hypogonadotropic hypogonadism, Recurrent pneumonia, Hepatosplenomega... ORPHA:353298
Thyroid Lymphoma
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Endocardial Fibroelastosis
Hypoglycemia, Congestive heart failure, Sandal gap, Anterior hypopituitarism, Hypoplasia of penis... ORPHA:2022
Interstitial Lung Disease 2
Cough, Dyspnea, Pulmonary arterial hypertension, Exertional dyspnea, Decreased DLCO OMIM:178500
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Small hand, Death in inf... OMIM:224690
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Oroticaciduria, Leukopenia, Recurrent fractures, He... OMIM:222700
Sapho Syndrome
Recurrent fractures, Craniofacial osteosclerosis, Osteomyelitis, Abnormal sacroiliac joint morpho... ORPHA:793
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Osteoporosis, Anemia, Membranous nephropathy, Decreased response to ... ORPHA:470
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Osteoporosis, Acute promyelocytic leukemia, H... ORPHA:77293
Weill-Marchesani Syndrome 2
Proportionate short stature, Mitral regurgitation, Brachydactyly, Patent ductus arteriosus, Conge... OMIM:608328
Osteootohepatoenteric Syndrome
Hypokalemia, Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid conce... OMIM:619377
Classic Pantothenate Kinase-Associated Neurodegeneration
Opisthotonus, Generalized dystonia, Inability to walk, Increased susceptibility to fractures, Cou... ORPHA:216866
Kenny-Caffey Syndrome, Type 1
Birth length less than 3rd percentile, Intrauterine growth retardation, Short palm, Delayed closu... OMIM:244460
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Impaired histidine renal tubular absorption, Rounded middle phalanx of finger, Shor... ORPHA:2158
Mgat2-Cdg
Brachydactyly, Decreased circulating IgG level, Osteopenia, Dolichocephaly, Arrhythmia, Patent du... ORPHA:79329
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Postnatal growth retard... OMIM:232700
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Bruising susceptibility, Osteopenia, Delayed closure of the anterior fontanelle, Joint laxity, Gi... OMIM:225410
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures, Dystonia, Tremor OMIM:304700
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Interstitial pneumonitis, Tac... OMIM:610913
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Distal arthrogryposis, Decreased plasma total carnitine, Arrhythmia, Ataxia, Elevat... ORPHA:42
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Clubbing, Wormian bones, Osteopenia, Patent ductus arteriosus, Arthritis, Osteoporosis, Thickened... OMIM:259100
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Intrauterine growth retardation, Increased susceptibility to fractures, Join... OMIM:253290
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Intrauterine growth retardation, Congestive heart failure, Increased urine succinat... OMIM:619048
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Addison Disease
Hypoglycemia, Primary adrenal insufficiency, Orthostatic hypotension, Hashimoto thyroiditis, Thym... ORPHA:85138
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy OMIM:609016
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Midshaft hypospadi... ORPHA:289548
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Lacticaciduria, Intrauterine growth retardation, Methylmalonic aciduria, Neonatal r... OMIM:245400
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Midshaft hypospadi... ORPHA:168558
Classic Homocystinuria
Joint stiffness, Gastrointestinal hemorrhage, Recurrent fractures, Subcutaneous hemorrhage, Pulmo... ORPHA:394
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Increased circulating I... ORPHA:29073
Farber Disease
Flexion contracture, Hepatosplenomegaly, Osteoporosis, Atelectasis, Anemia, Abnormality of the wr... ORPHA:333
Malaria
Respiratory distress ORPHA:673
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypokalemia, Hypoglycemia, Hypophosphatemic rickets, Hypouricemia, Osteomalacia, Bone... ORPHA:3337
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Hydronephrosis, Anemia, Proximal renal tubular acidosis, Thrombocytopenia, Renal tu... ORPHA:2785
Moebius Syndrome
Brachydactyly, Clinodactyly, Hypogonadotropic hypogonadism, Abnormality of pelvic girdle bone mor... OMIM:157900
Dysostosis, Stanescu Type
Brachydactyly, Bowing of the long bones, Wormian bones, Increased bone mineral density, Abnormali... ORPHA:1798
Acute Lung Injury
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Hajdu-Cheney Syndrome
Wormian bones, Renal cyst, Osteopenia, Patent ductus arteriosus, Dislocated radial head, Joint la... OMIM:102500
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Renal tubular acidosis, Fasting hypoglycemia, Hypercholesterolemia, Recurre... ORPHA:79240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Excessive insulin respons... ORPHA:276580
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Summitt Syndrome
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Short 4th metacarp... ORPHA:3210
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Hypoglycemia, Unsteady gait OMIM:610090
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... OMIM:114290
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction, Respirat... ORPHA:2414
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Tachypnea, Anemia, Rickets, Emphysema, Intrauterine growth retardatio... OMIM:613658
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Joint hypermobility, Short stature, Patholog... OMIM:259770
Surfactant Metabolism Dysfunction, Pulmonary, 5
Exertional dyspnea, Respiratory insufficiency, Dyspnea OMIM:614370
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Fasting hypoglycemia, Increased C-peptide level, Hyp... ORPHA:276575
Hallermann-Streiff Syndrome
Hypothyroidism, Tracheomalacia, Recurrent fractures, Congestive heart failure, Proportionate shor... ORPHA:2108
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Intrauterine growth retardation, Increased susceptibility to fractures, Join... OMIM:312150
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Hypoxemia... ORPHA:79127
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia OMIM:245650
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Urinary retention, Recurrent hypoglycemia, Hypophosphatemic rickets, Reduced C-pept... ORPHA:2126
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... ORPHA:226307
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Narrow iliac wing, Osteoporosis, Irregular carpal bones, Genu valgum, Hip dislocation, Shortening... OMIM:226980
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Short stature, Thin calvarium, Brachycephaly, Massively thickened long bone cortices OMIM:122900
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Arrhythmia, Congesti... OMIM:235200
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypoglycemic seizures, Ex... ORPHA:276556
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Osteolytic defects of the distal phal... ORPHA:2457
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Restrictive ventilatory defect, Lacticaciduria, Arrhythmia, Elevated circulating ac... ORPHA:26791
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Osteopenia, Hypoglycemia, Delaye... ORPHA:90695
Glycogen Storage Disease Ixa1
Hypoglycemia, Growth delay, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Recurrent fractures, Chronic lung disease, Follicular thyroid carcin... ORPHA:319487
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Short palm, Micropenis, Hypocalcemia, Patchy osteosclerosis, Severe intrau... OMIM:241410
Infantile-Onset X-Linked Spinal Muscular Atrophy
Mildly elevated creatine kinase, Ankle flexion contracture, Knee flexion contracture, Hip contrac... ORPHA:1145
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Osteoporosis, Abnormality of iron homeostasis, Diabetes mellitus, Increased circu... ORPHA:465508
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Abnormal left ventricular function, Hypoca... ORPHA:36913
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Osteopenia, Bone marrow hypocellularity, Crackles, Cough, Dyspnea, Anemia, Obstruct... OMIM:614742
Arthrogryposis, Distal, Type 2A
Elbow flexion contracture, Recurrent fractures, Rocker bottom foot, Joint dislocation, Knee flexi... OMIM:193700
Autosomal Dominant Kenny-Caffey Syndrome
Thin long bone diaphyses, Hypocalcemic seizures, Intrauterine growth retardation, Decreased skull... ORPHA:93325
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress OMIM:606763
Mulibrey Nanism
Dolichocephaly, Intrauterine growth retardation, Congestive heart failure, Thickened cortex of lo... OMIM:253250
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Micropenis, Type B brach... OMIM:113000
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, I... ORPHA:906
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, 3-Methylglutaconic aciduria, Hypoglycemia, Dystonia ORPHA:67046
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal respiratory distress, Respiratory failure, Tachypnea, Dyspnea, Pulmonary arterial... OMIM:265120
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Increased bone mineral density, Hematuria, Bone pain, Atrioventricular block, P... OMIM:259900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Flexion contracture, Hyperlipidemia, Insulin resistance, Osteolytic defects of the... ORPHA:90153
Idiopathic Hypereosinophilic Syndrome
Anemia, Thrombocytopenia, Intracranial hemorrhage, Somatic sensory dysfunction, Congestive heart ... ORPHA:3260
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hypoglycemia, Renal tubular dysfunction, Hyperinsulinemia OMIM:606528
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Craniosynostosis 6
Plagiocephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Brachycephaly, Spi... OMIM:616602
Fgfr2-Related Bent Bone Dysplasia
Brachydactyly, Bowing of the legs, Decreased calvarial ossification, Hypoplastic ischia, Osteopen... ORPHA:313855
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Shortened PR interval, Oligosacchariduria, Sleep apnea, Hypertrophic cardiom... ORPHA:365
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Multiple prenatal fractures, Patent ductus arteriosus, Respiratory failure, ... OMIM:616867
Coccidioidomycosis
Exudative pleural effusion, Vasospasm, Cough, Osteomyelitis, Granuloma, Vasculitis, Osteolysis, P... ORPHA:228123
Kaposiform Lymphangiomatosis
Fractures of the long bones, Subconjunctival hemorrhage, Abnormal pelvis bone morphology, Anemia,... ORPHA:464329
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias, Slender long bone, Generalized bone demineralization, Triangular shaped dista... ORPHA:73230
Van Maldergem Syndrome 2
Clinodactyly, Osteopenia, Tracheomalacia, Short 4th metacarpal, Joint laxity, Micropenis, Renal h... OMIM:615546
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Hypoplastic iliac wing, Short toe, Brachydactyly, Flexion contracture, Short phalanx of finger, S... OMIM:611717
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Upper airway obstruction, Respiratory distress ORPHA:100057
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distress ORPHA:142
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Rin2 Syndrome
Brachydactyly, Bruising susceptibility, Increased susceptibility to fractures, Joint hypermobilit... ORPHA:217335
Choanal Atresia
Craniosynostosis, Tracheomalacia, Abnormal nasal mucus secretion, Polydactyly, Upper airway obstr... ORPHA:137914
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Cerebrotendinous Xanthomatosis
Hypothyroidism, Somatic sensory dysfunction, Osteopenia, Resting tremor, Dystonia, Increased susc... ORPHA:909
Paget Disease Of Bone 6
Bone pain, Nephrocalcinosis, Osteoarthritis, Recurrent fractures OMIM:616833
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Glycogen Storage Disease Iii
Hypoglycemia, Hyperlipidemia, Midface retrusion, Elevated circulating creatine kinase concentrati... OMIM:232400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flexion contracture, Overlapping fingers, Hypertrophic cardiomyopathy, Inability t... OMIM:619383
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Recurrent fractures, Hematuria, Hypercalciuria, Bone pain, Chronic ki... ORPHA:416
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Finger joint hypermobility, Flexion contracture, Metacarpophalangeal joint contracture, Hyperexte... ORPHA:544503
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Cole-Carpenter Syndrome
Bowing of the long bones, Wormian bones, Intrauterine growth retardation, Recurrent fractures, Cr... ORPHA:2050
Van Maldergem Syndrome 1
Clinodactyly, Osteopenia, Tracheomalacia, Short 4th metacarpal, Joint laxity, Renal hypoplasia, S... OMIM:601390
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Arterial Tortuosity Syndrome
Cardiac arrest, Clinodactyly of the 5th finger, Telangiectasia of the skin, Hypertension, Cardior... ORPHA:3342
Gaucher Disease, Type I
Pancytopenia, Avascular necrosis, Splenomegaly, Thrombocytopenia, Dyspnea, Pulmonary arterial hyp... OMIM:230800
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Desbuquois Dysplasia 2
Genu varum, Radial head subluxation, Severe short stature, Metaphyseal widening, Broad thumb, Hip... OMIM:615777
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Recurrent fractures, Chronic lung disease, Goiter, Nodular goiter ORPHA:97290
Adamantinoma
Bone pain, Hypercalcemia, Pathologic fracture ORPHA:55881
Congenital Disorder Of Deglycosylation 1
Elevated alpha-fetoprotein, Action tremor, Dysmetria, Osteoporosis, Athetosis, Central sleep apne... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Dystonia, Arrhythmia, Hypertrophic cardiomyopathy, Hyperalaninemia OMIM:614702
Schwartz-Jampel Syndrome
Osteoporosis, Protrusio acetabuli, Arthrogryposis multiplex congenita, Death in infancy, Genu val... ORPHA:800
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Intrauterine growth retardation, Small anterior fontanelle, Widely ... ORPHA:2409
Congenital Insensitivity To Pain With Severe Intellectual Disability
Recurrent fractures, Impaired tactile sensation, Rocker bottom foot, Tibial bowing, Congenital bi... ORPHA:453510
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Clinodactyly, Intrauterine growth retardation, Hemolytic-uremi... ORPHA:2169
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Pseudohypoparathyroidism Type 1A
Hypertension, Decreased response to growth hormone stimulation test, Short fifth metatarsal, Brac... ORPHA:79443
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Porphyria, Congenital Erythropoietic