Registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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

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

Disease Similarity of
Matching phenotypes Source
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Coxa Vara
Coxa vara OMIM:122750
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Upington Disease
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Upington Disease
Arthralgia of the hip, Broad femoral neck, Flattened femoral head OMIM:191520
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Hypercalcemia ORPHA:55881
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Neonatal short-limb short stature, D... OMIM:222600
Coxopodopatellar Syndrome
Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology, Abnormality of... ORPHA:1509
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... OMIM:616963
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Pes planus, Micrognathia, Disproportionate short stature, Scoliosis, Gen... OMIM:618363
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Platyspondyly, Short stature, Abnormality of the metaph... ORPHA:93304
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Brachydactyly, Flat capital femoral epi... OMIM:601560
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Increased hepatic glycogen... ORPHA:293964
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Shallow acetabular fossae, Irregular capital femoral epiphysis, B... OMIM:142669
Short Stature Due To Ghsr Deficiency
Decreased body weight, Hypoglycemia, Abnormality of body weight, Growth delay, Short stature, Dec... ORPHA:314811
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... OMIM:609324
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Arrhythm... OMIM:235200
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Short neck, Short femoral neck, I... OMIM:271630
Brachydactyly, Hearing abnormality, Short neck, Abnormal form of the vertebral bodies, Low-set ea... ORPHA:2021
Mucopolysaccharidosis Type 6
Sinusitis, Recurrent upper respiratory tract infections, Short neck, Ovoid vertebral bodies, Kyph... ORPHA:583
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Cirrhosis, Panacinar emphysema, Wheez... OMIM:613490
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Gaucher Disease
Pancytopenia, Cherry red spot of the macula, Abnormal pericardium morphology, Anemia, Hepatitis, ... ORPHA:355
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short neck, Short femoral neck, Rhizomelia, Short ribs, Scoliosis... OMIM:610319
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... ORPHA:93316
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Gaucher Disease Type 3
Abnormal myocardium morphology, Pancytopenia, Abnormal heart valve morphology, Increased bone min... ORPHA:77261
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Osteoporosis, Bowing of the long bones, Increased bone mineral density, Hypercalciu... OMIM:239000
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Osteopenia, Hypocalcemia, Growth delay, Metaphyseal cupping, Flar... OMIM:619073
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infe... ORPHA:60025
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Blue Diaper Syndrome
Nephrocalcinosis, Hyperphosphatemia, Hypercalcemia, Blue urine ORPHA:94086
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Mucopolysaccharidosis, Type Vi
Disproportionate short-trunk short stature, Macroglossia, Inguinal hernia, Hypoplastic iliac wing... OMIM:253200
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Scoliosis, Abno... OMIM:184252
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Short stature, Skeletal muscle hype... OMIM:255710
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Oligomenorrhea, Pseudohypoparathyroidism, ... ORPHA:79444
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Abnormal foot morphology, Broad femoral n... ORPHA:85184
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Hypophosphatemic rickets, Osteomalacia, Stippled calcification of the ... ORPHA:51608
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Craniometadiaphyseal Dysplasia
Genu varum, Absent paranasal sinuses, Coxa valga, Osteopenia, Low-set ears, Sclerosis of skull ba... OMIM:269300
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Atypical Werner Syndrome
Glycosuria, Sclerosis of hand bone, Osteoporosis, Coronary artery atherosclerosis, Telangiectasia... ORPHA:79474
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Severe postnatal growth retardation, Pituita... OMIM:262700
Femoral-Facial Syndrome
Abnormal rib morphology, Micrognathia, Polycystic kidney dysplasia, Inguinal hernia, Scoliosis, H... ORPHA:1988
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Alopecia Areata 1
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Tibial Hemimelia
Absent tibia OMIM:275220
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Erectile dysfunction, Osteoporosis, Abnormality of iron homeostasis,... ORPHA:465508
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Hypoplastic vertebral bodies, Urinary glycosaminoglycan excretion,... ORPHA:79255
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Gro... ORPHA:171706
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Short stature, Kyphoscoliosis, Cutaneous finger syndactyly, Duplicatio... OMIM:600384
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Mitral regurgitation, Pulmonary carcinoid tumor, Aortic root aneurysm, Congestive hear... ORPHA:363618
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Pseudohypoparathyroidism Type 1A
Hypertension, Decreased response to growth hormone stimulation test, Oligomenorrhea, Pseudohypopa... ORPHA:79443
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Left ventricular hypertrophy, Spatulate ribs, Irregular... OMIM:619698
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Shallow acetabular fossae, Short long bone, Short ribs, Increased serum beta-he... OMIM:252600
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Oculocerebrodental Syndrome
Clinodactyly, Abnormality of the frontal hairline, Thoracic kyphosis, Nephrocalcinosis, Hypercalc... ORPHA:557003
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Low-set ears, Joint laxity, Osteoporosis, Growth delay, Elevated circula... OMIM:614727
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Severe short stature, Irregular patellae, Osteoporotic metatarsal, Metaphy... OMIM:609052
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... ORPHA:93323
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficie... ORPHA:1164
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Osteopenia, Intervertebral space narrowing, Short femoral neck, Disproporti... OMIM:271530
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Int... OMIM:619048
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Isolated Growth Hormone Deficiency, Type Ia
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... OMIM:262400
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Absent eyelashes, Osteoporosis, Absent eyebrow, Hyperkeratosis, Nail dystrophy, S... OMIM:618625
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Dysmetria, Hypoglycemia, Intrauterine growth retardation, Kyphosis... ORPHA:48431
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Platyspondyly, Lower limb undergrowth, Short stature, Irregula... OMIM:612847
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, A... ORPHA:94068
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Decreased calvarial ossification, Vertebral clefting, Rachitic ros... OMIM:241500
Rhabdoid Tumor
Renal neoplasm, Hematuria, Hypercalcemia, Neoplasm of the liver, Anemia, Hypertension, Lymphadeno... ORPHA:69077
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Elbow flexion contracture, Abnormality of epiphysis morphology, Dislocated radial head, Hearing i... ORPHA:93359
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Schimke Immunoosseous Dysplasia
Coarse hair, Disproportionate short-trunk short stature, Fine hair, Anemia, Hypertension, Thrombo... OMIM:242900
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Lethargy OMIM:143880
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Coronary artery atherosclerosis, Atherosclerosis, Hypertension, Diabetes mell... ORPHA:79083
Bowing of the long bones, Emphysema, Craniosynostosis, Recurrent fractures, Hypercalcemia, Narrow... ORPHA:436
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... ORPHA:79106
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Nephrocalcinosis, Osteopenia, Hypercalcemia, Short ribs, Clinodactyly o... OMIM:156400
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Finger symphalangism, Abnormal trabecular bone morphology, Cryptorchidism, Aplasi... ORPHA:221008
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia OMIM:239199
Mandibuloacral Dysplasia With Type A Lipodystrophy
Micrognathia, Acroosteolysis of distal phalanges (feet), Hyperlipidemia, Flexion contracture, Hyp... OMIM:248370
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple prenatal fractures, Decreased fibular diameter, Hydronephrosis, Decreased skull ossifica... OMIM:616897
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... OMIM:609325
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Marfan Syndrome
Emphysema, Ascending aortic dissection, Osteopenia, Congestive heart failure, Descending aortic d... ORPHA:558
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Abnormality of the nail, Muscle hypertrophy of the lower extremities, C... ORPHA:280365
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Enamel hypoplasia, Short metacarpal, Obesity, Osteoporosis, Short stature, Hyperph... OMIM:612462
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, Joint stiffness, Left ventricular hypertrophy, Patent foramen ov... OMIM:619127
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, Hypoplasia of penis, Micrognathia, Severe intrauterine growt... ORPHA:2323
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Low-set ears, Broad hallux, Atlantoaxial abnormality, Short stature, Macrotia, Broad thumb, Kypho... ORPHA:3433
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Osteoporosis, Hyperlordosis, Elevated circulating creatine kinase concentration, ... ORPHA:408
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Enamel hypoplasia, Short metacarpal, Obesity, Osteoporosis, Short stature, Hyperph... OMIM:103580
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Hypoplastic ilia OMIM:616583
Pelviscapular Dysplasia
Brachydactyly, Short neck, Low-set ears, Hearing impairment, Mesomelic leg shortening, Hypoplasti... ORPHA:93333
Cantú Syndrome
Thick eyebrow, Osteoporosis, Curly eyelashes, Narrow chest, Short neck, Ovoid vertebral bodies, P... ORPHA:1517
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia ORPHA:505
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Osteopenia, Metatarsal osteolysis, Proteinuria, Carpal osteolysis... OMIM:166300
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Cardiomyopathy, Hepatomegaly OMIM:609016
Aicardi-Goutières Syndrome
Hypothyroidism, Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Microcephaly,... ORPHA:51
Hypophosphatemic Rickets
Fibrous dysplasia of the bones, Craniofacial osteosclerosis, Osteomalacia, Disproportionate short... ORPHA:437
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Severe short stature, Scoliosis, Genu valgum OMIM:168400
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Abnormality of the nail, Coronary artery atherosclerosis, Atherosclerosis, Diabetes m... ORPHA:2348
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Joint stiffness, Abnormal heart valve morphology, Arthritis, Osteoarthritis, Myocardial infarctio... ORPHA:56
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... ORPHA:2722
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Nephrolithiasis, Thin ribs,... OMIM:613848
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Hypercalcemia, Micropenis, Hypercalciuria, Postnatal growth reta... OMIM:614732
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Fibular hypoplasia, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, ... OMIM:300373
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Platyspondyly, Anisospondyly, ... ORPHA:85198
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, H... ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia, Calvarial osteosc... OMIM:617994
Kennedy Disease
Skeletal muscle atrophy, Erectile dysfunction, Abnormal circulating lipid concentration, Testicul... ORPHA:481
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Flexion contracture, Rhizomelia, Sensorineural hearing impairment, Epiph... OMIM:215100
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Hydronephrosis, Abnormal thorax morphology, Micrognathia, Macroglos... ORPHA:798
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Short stature, Hypophosphatemia, Rickets OMIM:146350
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Excessive insulin response to... ORPHA:324575
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Pes planus, Growth delay, Flared m... ORPHA:370930
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance... OMIM:101800
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Lethargy, Short stature OMIM:611590
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Osteopenia, Hypoglycemia,... ORPHA:95619
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Foot dorsiflexor weakness, Abnormal foot morphology, Ankle flexion contracture, Pes cavus, Kyphos... OMIM:616668
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Osteopenia, Increased hepatic glycogen content, Osteoporosis, Hepatomegaly, Hypertr... ORPHA:369
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Central hypothyroidism, Cerebellar hypoplasia, Ataxia, Short stature, Postnatal gro... OMIM:616113
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Growth delay OMIM:602722
Flynn-Aird Syndrome
Cerebral calcification, Primary adrenal insufficiency, Joint stiffness, Kyphosis, Skeletal muscle... ORPHA:2047
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Micromelia, Narrow chest, Lethal short-limbed short stature, Brachyd... ORPHA:1860
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Goiter, Bradycardia, Congenital hypothyroidism,... ORPHA:226313
46,Xx Gonadal Dysgenesis
Osteopenia, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Atax... ORPHA:243
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Sensorineural hearing impairment, Hypoplastic scapulae, Micrognathia, ... ORPHA:440354
Warburg Micro Syndrome 1
Cerebral atrophy, Hypertrichosis, Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypopla... OMIM:600118
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Cellulitis, Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification, Arterial calc... ORPHA:280062
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Talipes, Rocker bottom foot, Overlapping fingers, Adducted thumb, U... ORPHA:1146
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Ovarian cyst, Osteomalacia, Scoliosis, Diabetes mellitus, Rickets... ORPHA:249
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Short palm, Hypocalcemia, Patchy osteosclerosis, Severe intrauterine growt... OMIM:241410
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypophosphatemic rickets, Myocardial infarction, Short stature, Hyperte... OMIM:208000
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Delayed puberty, Osteopenia, Osteoporosis, Hypogonadism OMIM:615270
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Intrauterine growth retardation, Overlapping fingers, Micrognathi... OMIM:617022
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hypercalcemia, Ascites, Hydrops fetalis, Hepatomegaly, Anemia, Polyhydr... ORPHA:2123
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Pectus excavatum, Micromelia, Short stature, Limb undergrowth, Massively thickened... OMIM:122900
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Parathyroid adenoma, Pneumothorax, Pulmonary sequestration ORPHA:122
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Nephrocalcinosis, Postaxial polydactyly, Lateral clavicle hook, T... OMIM:615633
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Lower limb muscle weakness, Intrinsic hand muscle atrophy, Pes cavus, Sc... ORPHA:3115
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arteriosclerosis, Cervical spondylosis, Back pain, Deep cerebral white matter hyperintensities, L... ORPHA:199354
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Clinodactyly of the 5th finger, Atresia of the external ... OMIM:224690
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Charcot-Marie-Tooth Disease Type 4D
Lower limb amyotrophy, Hammertoe, Abnormal foot morphology, Sensorineural hearing impairment, Upp... ORPHA:99950
Morbid Obesity And Spermatogenic Failure
Infertility, Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Azoospermia, Congestive... OMIM:615703
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Portal hypertension, Short stature, Nonarteriosclerotic cerebral calc... OMIM:210050
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... OMIM:269500
Spondyloepiphyseal Dysplasia Tarda
Disproportionate short-trunk short stature, Abnormality of the tibial plateaux, Scoliosis, Decrea... ORPHA:93284
Perrault Syndrome 1
Cerebellar atrophy, Primary amenorrhea, Osteoporosis, Ataxia, Gait ataxia, Short stature, Scolios... OMIM:233400
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Primary amenorrhea, Short neck, Joint laxity, Osteoporosis, Dorsocervical fat ... OMIM:616033
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Hypoglycemia, Intrauterine growth retardation OMIM:223500
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch OMIM:271620
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Rhizomelia, Sensorineural hearing impairment, Sandal gap, Hypocalcemia,... OMIM:607143
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sensorine... ORPHA:2790
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Generalized bone demineralization... ORPHA:3101
Werner Syndrome
Aplasia/Hypoplasia of the testes, Osteoporosis, Telangiectasia of the skin, Chondrocalcinosis, At... ORPHA:902
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Prominent v... ORPHA:97289
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Decreased circulating T4 level, Prolonged neona... ORPHA:95717
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Clinodactyly, Shortening of all distal phalanges of the fingers, Flexion contractu... OMIM:616809
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Intrauterine growth retardation, Prominent superficial veins, Increased vertebral... OMIM:616817
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cerebral calcification, Bone marrow hypocellularity, Nail dysplasia, Growth delay, ... OMIM:613987
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Pes planus, Sensorineural hearing impairment, Hernia, Joint ... ORPHA:300179
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Infertility, Primary amenorrhea, Cryptorchidism, Osteoporosis, Decreas... ORPHA:2232
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal fingertip morphology, Hyperlipidemia, Insulin resistance, Aplasia/Hypoplasia of the clav... ORPHA:90154
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
X-Linked Dominant Chondrodysplasia Punctata
Patchy alopecia, Coarse hair, Hydronephrosis, Patellar dislocation, Hip dislocation, Lower limb a... ORPHA:35173
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Osteomalacia, Fibular bowing, Rickets, Bowing of the legs, Nephrocalcin... OMIM:300554
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask de... OMIM:611497
Axial Mesodermal Dysplasia Spectrum
Renal cyst, Abnormality of the ureter, Abnormality of the liver, Morphological abnormality of the... ORPHA:1834
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Growth delay, Short... ORPHA:157215
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Lung adenocarcinoma, Hypertension, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Autosomal Recessive Kenny-Caffey Syndrome
Thin long bone diaphyses, Hypocalcemic seizures, Intrauterine growth retardation, Hypocalcemia, G... ORPHA:93324
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis OMIM:615269
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy OMIM:613909
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia,... ORPHA:171719
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Decreased skull ossification, Congenital diaphragmatic hernia, Test... OMIM:601163
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Diastrophic Dysplasia
Camptodactyly of finger, Abnormal rib morphology, Micrognathia, Micromelia, Scoliosis, Hip dyspla... ORPHA:628
Myopathic Ehlers-Danlos Syndrome
Pes planus, Increased variability in muscle fiber diameter, Tapered finger, Micrognathia, Scolios... ORPHA:536516
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Atherosclerosis, Scoliosis, Hypertens... OMIM:203800
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Small for gestational age, Increased bone mineral density, Severe sho... OMIM:127000
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency OMIM:240150
Dent Disease 1
Glycosuria, Osteomalacia, Microscopic hematuria, Fibular bowing, Stage 5 chronic kidney disease, ... OMIM:300009
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Rothmund-Thomson Syndrome
Infertility, Abnormality of the nail, Abnormal trabecular bone morphology, Nail dysplasia, Telang... ORPHA:2909
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Femur fracture, Splenomegaly, Hep... OMIM:259700
Metatropic Dysplasia
Abnormal cortical bone morphology, Kyphosis, Aplasia/Hypoplasia of the lungs, Abnormal form of th... ORPHA:2635
Rare Circulatory System Disease
Thoracic kyphosis, Limited wrist movement, Periostosis, Abnormal vascular morphology, Vascular ca... ORPHA:98028
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Foot dorsiflexor weakness, Hammertoe, Limb muscle weakness, Pes cavus, Distal amyotro... OMIM:118220
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Acromesomelia, Pes cavus, Short toe, Protruding ear, Lumbar kyphosis in infancy, Decreased muscle... ORPHA:3041
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Recurrent respiratory infections, Hirsutism, Kyphosis ORPHA:85288
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Pes planus, Knee flexion contracture, Limb muscle weakness, L... OMIM:610687
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Pulmonary insufficiency, Elevated c... OMIM:602088
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Recurrent fractures, Delayed puberty, Osteoporosis, Secondary growth hormone ... ORPHA:2410
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Increased hepatic glycogen content, Hepatomegaly, Pos... OMIM:232700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Cholestasis, Bile duct proliferation, Tachypnea, Inguinal hernia, Ane... OMIM:613658
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Myhre Syndrome
Clinodactyly, Generalized muscle hypertrophy, Radial deviation of finger, Cone-shaped epiphysis, ... OMIM:139210
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia OMIM:114580
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Cryptorchidism, ... ORPHA:221016
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Anemia, Scoliosis, Aortic valve calcification, Thrombocytopenia, Abnormal pulmonary... ORPHA:2072
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Prominent scalp veins, Micrognathia, Proximal symphalangism of hands, Inguinal hernia, B... OMIM:151050
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Timothy Syndrome
Hypothyroidism, Hypoglycemia, Pneumonia, Patent foramen ovale, Tetralogy of Fallot, Patent ductus... OMIM:601005
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, ... ORPHA:1166
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Cerebrooculofacioskeletal Syndrome 1
Abnormality of the ear, Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly plac... OMIM:214150
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Respiratory distress, Pancreatit... ORPHA:79312
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... ORPHA:99845
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia OMIM:615085
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... OMIM:108720
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Abnormality of the small intestine, Anemia, Lymphadenop... ORPHA:100025
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Hypercalcemia, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Camptodactyly of ... OMIM:208230
Kyphomelic Dysplasia
Micrognathia, Micromelia, Disproportionate short stature, Lateral clavicle hook, Ulnar bowing, Fl... OMIM:211350
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Low-set ea... ORPHA:1190
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation, Hypoplasia... OMIM:184100
Hemochromatosis Type 2
Increased circulating ferritin concentration, Dilated cardiomyopathy, Osteoporosis, Elevated tran... ORPHA:79230
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Limitation of joint mobility, Cerebral artery atherosclerosis, Hyperlordosis, Cor... ORPHA:1192
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Erysipelas, Intestinal lymphangiectasia, Hydronephrosis, Hypoplastic iliac wing, Thyroid lymphang... OMIM:235510
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Scoliosis,... OMIM:609616
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Tracheoesophageal fistula, Chondrocalcinosis, Abnormali... ORPHA:2591
Fanconi-Bickel Syndrome
Glycosuria, Hepatic failure, Diabetes mellitus, Postprandial hyperglycemia, Rickets, Bowing of th... ORPHA:2088
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Upper ... OMIM:613630
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Proteinuria, Cardiac amyloidosis, Renal amyloidosi... ORPHA:439232
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alopecia of scalp OMIM:617294
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Endocardial Fibroelastosis
Cognitive impairment, Hypoglycemia, Sandal gap, Anterior hypopituitarism, Micrognathia ORPHA:2022
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Isochromosomy Yq
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... ORPHA:98798
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnorma... ORPHA:40
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Glomerulopathy, Proteinuria ORPHA:2668
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Orthostatic hypotension, Hashimoto thyroiditis, Adrenocorticotropic hormone deficie... ORPHA:199299
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, Hyper... ORPHA:276556
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Thoracic aortic aneurysm, Endocardial fibroelastosis, Dysp... ORPHA:3093
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Micrognathia, Abnormal rib cage morphology, Ulnar deviation of the hand or... OMIM:114300
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Infertility, Dilated... OMIM:602390
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Serkal Syndrome
Renal agenesis, Malrotation of small bowel, Abnormal penis morphology, Pulmonic stenosis, Congeni... ORPHA:139466
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Congenital stapes ankylosis, Conductive hearing impairment, Broad hallux, Short d... OMIM:184460
You-Hoover-Fong Syndrome
Kyphoscoliosis, Hearing impairment, Pectus excavatum OMIM:616954
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Elevated circulating C-reactive protein concentration, Hyperkeratosis, O... OMIM:612852
Weill-Marchesani Syndrome 2
Scoliosis, Spinal canal stenosis, Proportionate short stature, Thickened helices, Brachydactyly, ... OMIM:608328
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Tetralogy of Fallot, Vertebral clefting, 2-3 toe syndactyly, Low-set ears, Short f... OMIM:614701
Ichthyosis--Cheek--Eyebrow Syndrome
Pes planus, Kyphoscoliosis, Abnormal thorax morphology OMIM:146720
Brachydactyly, Shortening of all distal phalanges of the fingers, Low-set ears, Jaundice, Macrogl... ORPHA:79320
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Contractures of the large joints, Osteoporosis, Microcephaly, Short stature, ... OMIM:608278
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Osteoporosis, Ovarian cyst, Adrenocorticotropic hormone deficien... ORPHA:91348
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus, Hydronephrosis, Macroglossia, Sacrococcygeal teratoma, Short 1st metacarpal, Hypert... OMIM:269150
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hammertoe, Pes cavus, Distal amyotrophy, Kyphoscoliosis, Upper limb postural tremor OMIM:180800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Increased renal tubular phosphate ... OMIM:211900
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Renal cyst, Bifid uvula, High palate, Craniosynostosis, Cholestasis, Short femo... OMIM:266920
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Chronic kidney disease, Congenital hepatic fibrosis, Hypertension... ORPHA:3156
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithiasis ORPHA:36913
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hearing impairment, Craniofacial hyperostosis,... OMIM:122860
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Osteoporosis, Primary amenorrhea OMIM:300604
Anauxetic Dysplasia 2
Brachydactyly, Ovoid vertebral bodies, Short neck, Hypoplasia of the femoral head, Thoracolumbar ... OMIM:617396
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal bone structure, Hypocalce... ORPHA:93160
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... OMIM:277300
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Elevated circulating creatinine concentration,... OMIM:616733
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Foot dorsiflexor weakness, Hammertoe, Sensorineural hearing impairment, Pes cavus, Di... OMIM:604563
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Short neck, Intrauterine growth retardation, Low-set ears, Abnormal verte... ORPHA:96183
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Hypoglycemia, Neonatal hypoglycemia, Small for gestational age, Clinodacty... ORPHA:231140
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Osteopenia, Female hypogonadism, Amenorrhea, Menorrhagia, ... ORPHA:397685
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Recurrent fractures, Hypercalcemia, Hypercalciuria, Tachypnea, Polyuria... OMIM:239200
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Cryptorchidism, Muscular dystrophy, Osteoporosis, Growth del... OMIM:307030
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, H... OMIM:166600
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Abnormal heart valve morphology, Airway obstruction, S... ORPHA:36412
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Muscle fiber necrosis, Gast... OMIM:614399
Small Cell Carcinoma Of The Bladder
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria ORPHA:284400
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
X-Linked Hypophosphatemia
Genu varum, Cellulitis, Upper limb metaphyseal widening, Rachitic rosary, Disproportionate short ... ORPHA:89936
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Osteopenia, Insulin resistance, Hyperinsul... OMIM:613327
Oculoskeletodental Syndrome
Renal agenesis, Short femoral neck, Hypercalcemia, Hypercalciuria, Cryptorchidism, Hypocalcemia, ... OMIM:618440
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Atrial flutter, First degree atrioventricular block, Frontal ba... OMIM:160900
Aarskog-Scott Syndrome
Widow's peak, Short neck, Cryptorchidism, Joint laxity, Shawl scrotum, Elevated circulating lutei... OMIM:305400
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Recurren... OMIM:600081
Abnormality of the vertebral column, Pleural empyema, Pancreatitis, Skin rash, Cough, Osteomyelit... ORPHA:228123
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondr... OMIM:241530
Spastic Paraplegia 20, Autosomal Recessive
Brachydactyly, Clinodactyly, Flexion contracture, Hammertoe, Lower limb muscle weakness, Pes cavu... OMIM:275900
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Scoliosis, Fragmented epiphyses, Genu valgum, Hip dislocation, Abnormal metatarsal mo... ORPHA:93360
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of the liver, Postaxial foot polydactyly, Micromelia, ... ORPHA:474
Bone Marrow Failure Syndrome 5
Testicular atrophy, Microcephaly, Anemia, Short stature, Pure red cell aplasia, Hypogonadism OMIM:618165
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis, Nail dysplasia, Hepatomegaly, Scoliosis, Pulmonary fibrosis, Alopecia, Delayed puberty OMIM:615704
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Occipital Horn Syndrome
Carotid artery tortuosity, Coarse hair, Pes planus, Hydronephrosis, Osteoporosis, Broad clavicles... OMIM:304150
Hypophosphatasia, Childhood
Bowing of the legs, Elevated plasma pyrophosphate, Craniosynostosis, Low alkaline phosphatase, El... OMIM:241510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Moderately short stature, Osteopenia, Campto... OMIM:612350
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Anterior rib cupping, Abnormal form of the vertebral bodi... ORPHA:1801
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrhea, Azoosperm... OMIM:614837
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Patent foramen ovale, Arrhythmia, Ve... ORPHA:26793
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Hip dislocation, Arthrogryposis multiplex congenita OMIM:212540
Mehmo Syndrome
Hypoglycemia, Birth length less than 3rd percentile, Delayed puberty, Micropenis, Inability to wa... OMIM:300148
Vacterl/Vater Association
Cryptorchidism, Hydronephrosis, Anorectal anomaly, Multicystic kidney dysplasia, Tracheal stenosi... ORPHA:887
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Classic Galactosemia
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Cryptorchidism, Abnormal erythr... ORPHA:79239
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Cupped ribs, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Skeletal muscle atrophy, Dislocated radial head, Long eyelashes, ... OMIM:614856
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Long eyebrows, Delayed puberty, Long eyelashes, Cryptorchidism, Se... OMIM:275400
Werner Syndrome
Premature arteriosclerosis, Abnormal hair morphology, Osteoporosis, Short stature, Diabetes melli... OMIM:277700
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Tetralogy of Fallot, Hypoxemia, Atrial s... ORPHA:2847
Osteopetrosis, Autosomal Dominant 1
Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosc... OMIM:607634
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Delayed proximal femoral epiphyseal ossification, Reduced ra... ORPHA:95716
Addison Disease
Hypoglycemia, Orthostatic hypotension, Primary adrenal insufficiency, Hashimoto thyroiditis, Thym... ORPHA:85138
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Flattened metatarsal heads, Structural foot deformity, ... ORPHA:564003
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis, Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Ciliary dy... ORPHA:1882
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Genu varum, Cone-shaped epiphysis, Scoliosis, Irregular carpal bones, Abnormality of femoral epip... ORPHA:750
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Marfan Syndrome
Mitral regurgitation, Emphysema, Premature osteoarthritis, Flexion contracture, Aortic regurgitat... OMIM:154700
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Calcification of the small brain vessels, Limb joint contracture, Microcephaly, Short stature, De... OMIM:114100
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Parathormone-independent increased renal tubular calcium reabsorption, Multiple... OMIM:600740
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Diabetes mellitus, Increased bone mineral density OMIM:602475
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Elevated 8-dehydrocholesterol, Hydronephrosis, Abnormal thorax morphology, Scoli... OMIM:302960
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bodies, Metaphys... OMIM:260400
Progressive Familial Intrahepatic Cholestasis
Short stature, Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Intrauterine growth retardation, Patent ductus arteriosus, Low-set ears, Decreased li... OMIM:608104
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Splenomegaly, Hepatomegaly, Dyspnea, Recurrent respira... OMIM:607616
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Generalized joint laxity, Impotence, Male hypog... ORPHA:432
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Fibular bowing, Rickets, Bowing of the legs, Bulging of the costochondral j... OMIM:277440
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Proximal muscle weakness in upper limbs, Knee flexion contracture, Upper l... ORPHA:496689
Non-Acquired Panhypopituitarism
Infertility, Hypoglycemia, Decreased response to growth hormone stimulation test, Decreased testi... ORPHA:90695
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Cough, Joint hypermobility, Arachnodactyly, Scoliosis, Short stat... OMIM:619013
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disproportionate s... ORPHA:99642
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Talipes calcaneovalgus, Renal tubular acidosis, Nephrocalcinosis, Low-set ears, Conjugated hyperb... OMIM:613404
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Central sleep apnea, Micrognathia, Scoliosis, Renal dysplasia, Abnormal... ORPHA:369837
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Proteinuria, Macroglossia, Metaphyseal widening, Recurrent pneumonia, Flexion contra... OMIM:617303
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Osteoporosis,... ORPHA:251510
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Pes planus, Osteoporosis, Micrognathia, Inguinal hernia, Abnormality of ... OMIM:255800
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Spinal Muscular Atrophy, Ryukyuan Type
Pes cavus, Kyphoscoliosis, Spin