Gene: Kl MGI:1101771

Registered for phenotyping at IMPC

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

Gene Summary

Name:

klotho

Synonyms:

alpha-kl

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

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 Kl 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.

Human diseases associated with Kl (1 diseases)
Human diseases predicted to be associated with Kl (3655 diseases)

The table below shows human diseases associated to Kl by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3		Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994

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

Disease	Matching phenotypes	Source
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Coxa Vara	Coxa vara	OMIM:122750
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Upington Disease	Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o...	ORPHA:3408
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Upington Disease	Flattened femoral head, Broad femoral neck, Arthralgia of the hip	OMIM:191520
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Ectopic ossification, Short metatarsal, Ob...	ORPHA:79445
Adamantinoma	Hypercalcemia	ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Diastrophic Dysplasia	Cervical kyphosis, Hypertrophic auricular cartilage, Neonatal short-limb short stature, Hypoplast...	OMIM:222600
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente...	OMIM:177170
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short attention span, Short stature, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:171706
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Hypocalcemia, Autosomal Dominant 1	Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ...	ORPHA:93304
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Abnormality of body we...	ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi...	OMIM:142669
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Lethargy, Medullary n...	OMIM:143880
Spondylometaphyseal Dysplasia, Corner Fracture Type	Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari...	OMIM:184255
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Hearing abn...	ORPHA:2021
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating f...	OMIM:235200
Gaucher Disease	Osteopenia, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Increased bone mineral d...	ORPHA:355
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Pectus carinatum, Coarse...	OMIM:253220
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, R...	ORPHA:583
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Scoliosis, Renal cortical...	OMIM:611555
Gaucher Disease Type 3	Recurrent respiratory infections, Increased bone mineral density, Mitral valve calcification, Abn...	ORPHA:77261
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough...	ORPHA:60033
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Reduced ...	ORPHA:79474
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Hypocalcemia, Hypophosphatemia, ...	OMIM:619073
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio...	ORPHA:60025
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short stature, Ankylosis, Hydrox...	OMIM:239000
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flattened femoral head, Decreased...	ORPHA:79255
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cerebral calcification, Medial calcification of large arteries, Adrenal cal...	ORPHA:51608
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Elevated cir...	OMIM:614727
Myotonia With Skeletal Abnormalities And Mental Retardation	Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, ...	OMIM:255710
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudohypoparathyroidism Type 1C	Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin...	ORPHA:79444
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Irregular vertebral endplates, Knee dislocation, Microretrognathia, Short stature, ...	OMIM:618363
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Stiff neck, Overlapping fingers, Torticollis, Overriding aorta, ...	OMIM:617022
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Short stature, Decreased respo...	ORPHA:94089
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi...	OMIM:269300
Pseudohypoparathyroidism Type 1A	Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin...	ORPHA:79443
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:614732
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Short stature, Hypercalcemia, Hyperlordosis, Sensorineural hearing impairm...	ORPHA:557003
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of ...	ORPHA:1988
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio...	OMIM:613490
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Tibial Hemimelia	Absent tibia	OMIM:275220
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b...	OMIM:600384
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Hypophosphatasia, Infantile	Apnea, Micromelia, Bowing of the legs, Nephrocalcinosis, Intracranial hemorrhage, Unossified vert...	OMIM:241500
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Flexion contracture, Glucose intolerance, Macrovesicular hepatic steatosis, Patent fo...	OMIM:619127
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Spondyloepiphyseal Dysplasia, Stanescu Type	Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Vertebral wedging, Platyspondyly, In...	OMIM:616583
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Hepatocellular carcinoma, Stiff interphalangeal joints, Hyperglycemia, Let...	ORPHA:465508
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short...	OMIM:619698
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Alopecia, Short clavicl...	OMIM:248370
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Increased serum beta-hexosaminidas...	OMIM:252600
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Spinal rigid...	OMIM:620386
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Lipoatrophy, Congestive heart failure, Emphy...	ORPHA:363618
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Myocardial infarction, Abnormal h...	ORPHA:902
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Osteoporosis, Short metatarsal, Obesity, Hyperphosphatemia, Hypo...	OMIM:612462
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Marfan Syndrome	Osteopenia, Pulmonary artery dilatation, Mitral valve calcification, Arthralgia/arthritis, Sponta...	ORPHA:558
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Hema...	ORPHA:69077
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous...	OMIM:103580
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ...	OMIM:612847
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Short statu...	ORPHA:48431
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Singleton-Merten Syndrome 2	Osteopenia, Short stature, Aortic valve calcification, Osteolytic defects of the phalanges of the...	OMIM:616298
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:408
Hypophosphatasia	Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Hypercalcemia, Em...	ORPHA:436
Spondyloepiphyseal Dysplasia Congenita	Back pain, Short neck, Micrognathia, Reduced bone mineral density, Barrel-shaped chest, Abnormall...	ORPHA:94068
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria	OMIM:239199
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Short neck, Flexion contractu...	OMIM:616897
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con...	OMIM:619048
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Eiken Syndrome	Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm...	ORPHA:79106
Pparg-Related Familial Partial Lipodystrophy	Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Generalized hirsuti...	ORPHA:79083
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon...	OMIM:242900
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothermi...	OMIM:601005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Elevated circulating creatine kinase concentration, Short neck, Knee flexion contract...	OMIM:616809
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin...	OMIM:156500
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Oste...	OMIM:618625
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia, Hepatomegaly	OMIM:609016
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r...	OMIM:600002
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Joint stiffne...	ORPHA:56
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Hypoplasia of penis, Short s...	ORPHA:2323
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Decreased muscle mass, Short stature, Broad hallux, Kyphoscoliosis, Low-set ears, Atlantoaxial ab...	ORPHA:3433
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Hypothermia, Delayed epiphyseal ossification, Elevated circulating thyroid-...	ORPHA:226313
Cantú Syndrome	Short neck, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism, Finger syndac...	ORPHA:1517
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Neutropenia, Sparse hair, Hypothyroidism, Calcinosis, Premature ovar...	ORPHA:221008
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir...	OMIM:609325
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Hyperphosphaturia, H...	OMIM:156400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I dia...	OMIM:620365
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at...	ORPHA:280365
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosi...	ORPHA:3268
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Short stature, Hepatocellu...	ORPHA:369
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Pelviscapular Dysplasia	Brachydactyly, Hypoplastic scapulae, Abnormal pinna morphology, Short stature, Congenital hip dis...	ORPHA:93333
Osteopathia Striata With Cranial Sclerosis	Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Conductive hearing impairm...	OMIM:300373
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Congenital diaphragmat...	OMIM:166300
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Renal cyst, Tibial ...	ORPHA:798
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Elevated circulating creatine kinase concent...	OMIM:255800
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Patchy reduction of bone mineral density, Abnormality of the cervical spine, C...	ORPHA:249
Familial Partial Lipodystrophy, Dunnigan Type	Dysmenorrhea, Hepatic steatosis, Abnormality of the nail, Generalized hirsutism, Hepatomegaly, In...	ORPHA:2348
Thanatophoric Dysplasia Type 1	Micromelia, Femoral bowing, Narrow chest, Abnormality of the kidney, Wide anterior fontanel, Abno...	ORPHA:1860
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Pectus carinatum, Coarse hair, Narrow chest, B...	OMIM:304150
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Idiopathic Congenital Hypothyroidism	Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu...	ORPHA:95717
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Xylt1-Cdg	Pes planus, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, Short fe...	ORPHA:370930
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia...	OMIM:612387
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Cerebellar vermis hypoplasia, Generalized joint laxity, Promin...	ORPHA:2962
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Ver...	ORPHA:85198
Hypophosphatemic Bone Disease	Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia	OMIM:146350
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Arachnodactyly, Congenital diaphragmatic hernia, Limitation of j...	ORPHA:171719
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic v...	OMIM:101800
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Alopeci...	OMIM:215100
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol...	OMIM:616668
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Emphysema, Hepatitis	ORPHA:60
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Short stature, Increased circulating gonadotropin level, Osteoporosis...	OMIM:233400
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti...	ORPHA:481
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma	ORPHA:122
Calciphylaxis	Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ectopic ossification, Arterial calc...	ORPHA:280062
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cerebral calcification, Ataxia, Joint stiffness, Abnormality o...	ORPHA:2047
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf...	OMIM:615633
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Growth delay, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Short stature, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Lethargy	OMIM:611590
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Polyhydramnios, Renal hypoplasia/aplasia, Throm...	ORPHA:2123
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu val...	ORPHA:3115
Coronary Artery Disease, Autosomal Dominant 2	Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hype...	OMIM:610947
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Premature ovarian insufficiency, Ataxia, Short stature, Sparse pubic ha...	ORPHA:243
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cerebral calcification, Micropenis, Hypothyroidism, Short ...	ORPHA:51
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Fanconi Renotubular Syndrome 5	Genu valgum, Hypertension, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic ricke...	OMIM:618913
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Spastic ataxia, Diffuse cerebral atrophy, Kyphoscoliosis, Cervical spondylosis, Stroke...	ORPHA:199354
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Short stature, ...	OMIM:127000
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm o...	ORPHA:97289
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Short stature, Down-sloping shoulders, Kyphoscoliosis, Micrognathia,...	OMIM:616817
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Cerebral calcification, Tachypnea, Reduced bone mineral density, Cough, Emphysema, He...	OMIM:613658
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Charcot-Marie-Tooth Disease Type 4D	Postural tremor, Kyphoscoliosis, Abnormal foot morphology, Sensorineural hearing impairment, Spli...	ORPHA:99950
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, ...	OMIM:224690
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda...	OMIM:620366
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphosco...	OMIM:184253
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Short stature, Coronary artery calcification, Myocardial infarctio...	OMIM:208000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot...	ORPHA:2410
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ...	OMIM:602088
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st...	ORPHA:35173
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplas...	ORPHA:2232
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Kyphosis, Recurrent respiratory infections, Hirsutism	ORPHA:85288
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Pes planus, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati...	ORPHA:300179
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Short stature, Abnormal fingertip morp...	ORPHA:90154
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Short stature, External genital hypoplasia, Kyphoscoliosis, Cryptor...	OMIM:600118
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen...	ORPHA:1834
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph...	OMIM:300232
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se...	ORPHA:2790
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho...	ORPHA:93324
Calcification Of Joints And Arteries	Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Inte...	OMIM:211800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Smal...	OMIM:241410
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g...	ORPHA:1802
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Femur fracture, Cranio...	OMIM:259700
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ...	ORPHA:2909
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Coxa valga	OMIM:271620
Diastrophic Dysplasia	Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Micromelia, Mi...	ORPHA:628
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Hepatomegaly, Lipodystrophy,...	OMIM:613327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperamm...	ORPHA:79312
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Short stature, Sho...	OMIM:139210
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism	OMIM:615269
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy	OMIM:613909
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Skin rash, Elevated circulating C-reactive prote...	OMIM:612852
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Sandal gap, Rhizomelia, Abnormal pinna morpholo...	OMIM:607143
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Short stature, Portal hypertension, Nonarteriosclerotic cerebral calcification, Cirrhosis, Emphys...	OMIM:210050
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Nemaline Myopathy 7	Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal ...	OMIM:610687
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C...	OMIM:151050
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia	OMIM:114580
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Decreased skull ossification,...	OMIM:601163
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Calcinosis, Aplastic ane...	ORPHA:221016
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce...	ORPHA:276580
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Aapoaiv Amyloidosis	Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elevated circulating ...	ORPHA:439232
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Reduced bone mineral density, Pectus carinatum, Enlarged thorax, Femoral...	OMIM:614856
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Abnormality of the kidney, Hypercalcemia, Bone ...	ORPHA:2591
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Marfan Syndrome	Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contracture, Emphysema, Tric...	OMIM:154700
Spinocerebellar Ataxia Type 32	Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy	ORPHA:276183
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,...	ORPHA:2635
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Synco...	ORPHA:276575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Short stature, Dorsocervical fat pad, Short neck, Osteoporosis, ...	OMIM:616033
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchid...	ORPHA:1166
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Elevated c...	OMIM:305400
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Protruding e...	ORPHA:3041
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat...	OMIM:617913
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis, Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Pes c...	OMIM:118220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Aplasia/Hypoplasia of the cerebellum, Hyperlordosis, Cryptorchidism, Limitation of...	ORPHA:1192
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy...	ORPHA:95716
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Weill-Marchesani Syndrome 2	Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype...	OMIM:608328
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short...	ORPHA:40
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Hepatosplenomegaly, Azoospermia, Varicose veins, Pul...	ORPHA:2072
Sclerosteosis 1	Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial pals...	OMIM:269500
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Glycogen Storage Disease Vi	Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Increased...	OMIM:232700
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:36913
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Short stature, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Short...	OMIM:617396
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Expanded metacarpals with widened ...	OMIM:182250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of ...	ORPHA:457395
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Hypoplasia of first rib...	OMIM:269150
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Oculoskeletodental Syndrome	Hepatomegaly, Short stature, Hypercalcemia, Cryptorchidism, Splenomegaly, Low anterior hairline, ...	OMIM:618440
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Short stature, Highly arched eyebrow, Synophrys, Vertebral clefting...	OMIM:614701
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Conducti...	OMIM:611209
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei...	ORPHA:276608
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Facial palsy, Elevated circulating creatine kinase...	OMIM:614399
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Kyphoscoliosis, Cryptorchidism, Basal ganglia calci...	OMIM:214150
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c...	OMIM:212140
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen...	ORPHA:79320
Ichthyosis--Cheek--Eyebrow Syndrome	Pes planus, Abnormal thorax morphology, Kyphoscoliosis	OMIM:146720
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased...	OMIM:613630
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia...	ORPHA:139466
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Hypertrophic cardio...	OMIM:619902
Coccidioidomycosis	Respiratory distress, Abnormal long bone morphology, Morbilliform rash, Cough, Broad ribs, Abnorm...	ORPHA:228123
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth d...	ORPHA:3363
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Short stature, Hypoglycemia, Small for gestational age, Micrognathia, Postn...	ORPHA:73272
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, ...	OMIM:241530
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl...	OMIM:208230
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Abnormal femur morpholo...	ORPHA:324
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Kyphoscoliosis, Hammertoe, Distal amyotrophy, Pes cavus, Action tremor	OMIM:180800
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Dyspnea, Tachypnea, ...	OMIM:239200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad...	OMIM:308700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, ...	OMIM:235510
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Restrictive ventilatory d...	OMIM:615704
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos...	OMIM:122860
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dislocation, Low-set e...	ORPHA:96183
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum,...	ORPHA:93160
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Small Cell Carcinoma Of The Bladder	Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria	ORPHA:284400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Endocardial Fibroelastosis	Sandal gap, Hypoglycemia, Micrognathia, Cognitive impairment, Anterior hypopituitarism	ORPHA:2022
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Fanconi-Bickel Syndrome	Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Elevated circulating aspartate a...	ORPHA:2088
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Hypoglycemia, Small for gestational age, Lower limb asymmetry, Postnatal growth re...	ORPHA:231140
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Thrombocytope...	OMIM:611490
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati...	OMIM:307800
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Short stature, Craniosynostosis, Bow...	OMIM:241510
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte...	OMIM:616733
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Tracheal calcification, Sparse hair, Rhizom...	OMIM:302960
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ...	ORPHA:276556
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contrac...	OMIM:114300
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Splenomegaly, Emphy...	ORPHA:36412
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Pes planus, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosis,...	OMIM:612350
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ...	OMIM:608940
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis, Sensorineural hearing impairment, Split hand, Hammertoe, Distal amyotrophy, Talip...	OMIM:604563
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Hypothyroidism, Fi...	ORPHA:1882
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility...	ORPHA:397685
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, Frontal balding, First degree atrioven...	OMIM:160900
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Hepatomegaly, Ventricular septal defect...	ORPHA:26793
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Hypertension, Complete duplication of the distal phalanges of the hand, Multiple...	ORPHA:1879
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy, Kyphoscoliosis, Inability to walk	OMIM:617105
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus add...	ORPHA:3101
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont...	OMIM:277300
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag...	ORPHA:2847
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension...	ORPHA:3156
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Respiratory insufficiency, Hyperammonemia, Dehydration, Anemia	ORPHA:28
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insuffic...	ORPHA:474
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Cerebr...	OMIM:222300
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Short ...	OMIM:607616
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ...	OMIM:609285
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Short stature, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa...	OMIM:618484
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Sp...	OMIM:308750
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc...	ORPHA:750
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Abnormal internal carot...	ORPHA:365
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:90695
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Vacterl/Vater Association	Hypoplasia of penis, Congenital diaphragmatic hernia, Ectopic kidney, Abnormality of the urethra,...	ORPHA:887
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hypopar...	ORPHA:199299
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Diabetes mellitus	OMIM:602475
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Femoral bowing, Narrow chest, Patent ductus arteriosus, Elevate...	OMIM:618188
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Spinal Muscular Atrophy, Ryukyuan Type	Pes cavus, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c...	ORPHA:453533
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone...	ORPHA:79324
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ...	ORPHA:93325
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, C...	OMIM:606054
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Shwachman-Diamond Syndrome 1	Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Elevated hepatic transa...	OMIM:260400
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of deltoid muscle, Short femur, Limited interphalangeal moveme...	OMIM:147750
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f...	OMIM:614473
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly...	ORPHA:289548
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Inability to walk, Gait atax...	OMIM:300148
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur...	ORPHA:398079
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Short...	OMIM:619013
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis	OMIM:261650
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Werner Syndrome	Premature arteriosclerosis, Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated hemo...	OMIM:277700
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Loeys-Dietz Syndrome 4	Joint laxity, Pes planus, Torticollis, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Eosi...	OMIM:614816
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi...	OMIM:268310
Spermatogenic Failure, X-Linked, 2

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