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, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... 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
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
Short stature, Short distal phalanx of the 3rd finger, Ectopic ossification, Short metatarsal, Ob... ORPHA:79445
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
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
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
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
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
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
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
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
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
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
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
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
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
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
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
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
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