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Gene: Cdk10 MGI:2448549

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cyclin dependent kinase 10
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cdk10 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 Cdk10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Al Kaissi Syndrome
Postnatal growth retardation, Atrial septal defect, Sacral dimple, Torticollis, Hemivertebrae, Sh... OMIM:617694

The table below shows human diseases predicted to be associated to Cdk10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Cardiomegaly, Intrauterine... OMIM:616897
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Acromesomelia, Death in infancy, Short humerus, Aplasi... OMIM:200700
Femoral-Facial Syndrome
Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Sc... ORPHA:1988
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormal p... ORPHA:1190
Osteogenesis Imperfecta, Type X
Tibial bowing, Dentinogenesis imperfecta, Joint hypermobility, Fibular bowing, Rhizomelia, Scolio... OMIM:613848
Acrocapitofemoral Dysplasia
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy... OMIM:607778
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Muscle fiber atrophy, Rhabdomy... ORPHA:228302
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Lumbar ... OMIM:100800
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Abnormality of the diaphragm, Ate... ORPHA:2357
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Pseudoachondroplasia
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone... ORPHA:750
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Crome Syndrome
Short stature, Renal tubular epithelial necrosis OMIM:218900
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Atrial septal defect, Abnormality of the kidney, Patent ductus ar... ORPHA:1860
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Distal lower limb muscle weakness, Decreased cervical spine flexion due to contractures of poster... ORPHA:254361
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S... OMIM:618728
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Sh... OMIM:147891
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Disproportionate short-limb short stature, ... OMIM:132400
Short-Rib Thoracic Dysplasia 12
Short ribs, Short long bone, Splenomegaly, Intrauterine growth retardation, Cystic renal dysplasi... OMIM:269860
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Severe short stature, Hump-shaped mound of bone in central and posterior port... ORPHA:99642
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Hypospadias, Glandular hypospadias, Death in infancy, Centrally nuclea... OMIM:300219
Ivic Syndrome
Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis... OMIM:147750
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... OMIM:600121
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Repeated pneumothoraces, Arachnodactyly, Slender long bones with narrow diaphyses... ORPHA:536467
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Ureterocele, Abnormality of the bladder, Osteoporosis, Urethra... ORPHA:79404
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Media... ORPHA:2302
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Pedal edema... ORPHA:49041
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Sandal gap, Morgagni diaphragmatic hernia, Death in infancy, Joint hypermobility, M... OMIM:613177
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Tibial bowing, Enamel hypomineralization, Metaphyseal irregularity, Rickets, Fibu... OMIM:307800
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Absent thumb, Aplasia/Hypoplasia of th... OMIM:612447
Acute Interstitial Pneumonia
Ground-glass opacification, Reduced hematocrit, Atelectasis, Lymphadenopathy, Pleural effusion, P... ORPHA:79126
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Hypospadias, Sandal gap, Patent ductus... OMIM:607143
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var... OMIM:201000
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis, Chronic sinusitis OMIM:300455
Roifman Syndrome
Postnatal growth retardation, Biconvex vertebral bodies, Clinodactyly of the 5th finger, Hepatome... OMIM:616651
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Short metac... OMIM:215140
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Platyspondyly, Int... OMIM:271530
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... OMIM:134780
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... ORPHA:166011
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis, Chronic sinusitis OMIM:615294
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Recurrent urinary tract infections, Mandibular prognathia, Short femur, Finger jo... OMIM:620494
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Death in infancy, ... OMIM:210710
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Short stature, Humerorad... ORPHA:93333
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Tracheobronchomalacia, Pulmonary sequestration, Abnormal lung morphology,... ORPHA:70589
Farber Disease
Elevated circulating hepatic transaminase concentration, Diffuse reticular or finely nodular infi... ORPHA:333
Atelosteogenesis, Type Iii
Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker... OMIM:108721
Roifman Syndrome
Postnatal growth retardation, Biconvex vertebral bodies, Clinodactyly of the 5th finger, Lymphade... ORPHA:353298
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Joint hypermobility, Cone-sh... ORPHA:439822
Ethylene Glycol Poisoning
Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Facial pal... ORPHA:31826
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Metacarpal osteolysis, Pes cavus, Congenital diaphragmatic hernia, Osteopenia, Ca... OMIM:166300
Kyphomelic Dysplasia
Platyspondyly, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral b... OMIM:211350
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis OMIM:615872
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia, Abnormal finger morphology, Synostosis of carpal bones, Joint stiffn... ORPHA:896
Hypophosphatemic Rickets, X-Linked Recessive
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300554
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Mandibular prognathia, Short ... OMIM:601216
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Progressive Pseudorheumatoid Arthropathy Of Childhood
Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ... ORPHA:1159
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Hepatic hemangioma, Abnormal bone ossification, Hepatomegaly, Abnor... ORPHA:73230
C1Q Deficiency 2
Atelectasis, Anemia, Recurrent lower respiratory tract infections, Arthritis, Bronchiectasis OMIM:620321
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Recurrent lower respiratory tract infect... OMIM:231070
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Short humer... ORPHA:17
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... OMIM:300009
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Amelia, Foot oligodactyly, Short femur, Ventricular septal defect OMIM:601357
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Abnormal heart morphology, Intrauterine growth retardation, Short 5th finger,... ORPHA:508488
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi... ORPHA:763
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Atelectasis, Craniosynostosis, Delayed eruption of teeth, Scoliosis, Joint hypermobil... ORPHA:2314
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atrial septal defect, Atelectasis, Parenchymal consolidation, Elevate... OMIM:610978
Cystic Echinococcosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal subp... ORPHA:400
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Hepatomegaly, Patent ductus arteriosus, Diastasis recti, Pulmonic s... OMIM:608149
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v... ORPHA:93160
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Talipes, Clinodactyly of the 5th finger, Anemia, Delayed eruption... OMIM:300990
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di... OMIM:101800
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Limb hypertonia, Glandular hypospadias, Pulmonary hypoplasia, Cardiomegaly, Short f... OMIM:620306
Hyperparathyroidism, Transient Neonatal
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Splenic cys... OMIM:618188
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal... OMIM:620233
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Splenomegaly... OMIM:602557
Autosomal Recessive Hypophosphatemic Rickets
Tibial bowing, Abnormality of renal excretion, Craniosynostosis, Genu varum, Renal phosphate wast... ORPHA:289176
Three M Syndrome 1
Postnatal growth retardation, Increased vertebral height, Clinodactyly of the 5th finger, Hypospa... OMIM:273750
Martsolf Syndrome 1
Slender ulna, Cardiomyopathy, Short metacarpal, Broad femoral neck, Joint hypermobility, Osteopat... OMIM:212720
Catel-Manzke Syndrome
Postnatal growth retardation, Genu valgum, Clinodactyly of the 5th finger, Dextrocardia, Joint hy... OMIM:616145
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Large iliac wing, Cardiomyopathy, Kyphosis, Dermatan sulfate excret... OMIM:253220
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Metaphyseal striations, Short stature, Hypoplasia of the maxilla, Slende... OMIM:608154
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imaging finding, Atelectasis, Pleural e... ORPHA:2902
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Kyphosis, Death in infancy, Joint stiffness, Nephrocalcinosis, Multiple renal cy... ORPHA:534
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Reduced bone mineral density, Recurrent urinary tract... OMIM:620210
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Abnormal heart valve morphology, Limitation of joint ... ORPHA:171719
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Situs ... OMIM:615415
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Femoral bowing, Tibial bowing, Cardiomyopathy, Irregular, rachitic-lik... ORPHA:289157
Cohen Syndrome
Delayed puberty, Genu valgum, Short metatarsal, Facial hypotonia, Short metacarpal, Short stature... OMIM:216550
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Scoliosis, Mandibular prognathia, Vertebral clefting, Hypoplasia ... ORPHA:1248
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Aplasia/hypoplasia of the humerus, Absent radius, Adducted thumb, Patellar dislocati... ORPHA:3320
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wasting, Delayed epiphyseal os... OMIM:241530
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Talipes, Delayed eruption of teeth, Genu recurvatum, Finger synda... ORPHA:915
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Pneumonia, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Asp... OMIM:244400
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Arachnodactyly, Multiple renal cysts, Splenomegaly, Intrauterin... ORPHA:567
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Platyspondyly, Hip osteoarthritis, Hypoplastic... OMIM:313400
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Facial hypotonia, Lower limb amyotrophy, Urinary urgency, Urinary bladder s... OMIM:300266
Lymphangioleiomyomatosis
Pneumothorax, Renal neoplasm, Hematuria, Lymphadenopathy, Emphysema, Atelectasis, Chylothorax, Re... ORPHA:538
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent upper respiratory tract infections ORPHA:922
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Death in infan... ORPHA:1106
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Atelectasis, Recurrent lower respiratory tract infections, Abnormality of the... ORPHA:258
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat... OMIM:612387
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Renal dysplasia, Abnormal renal corticomedullary differentiation, P... OMIM:616733
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Atrial septal defect, Torticollis, Galactosuria, Clinodactyly of th... ORPHA:251061
Stickler Syndrome Type 1
Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of the maxilla... ORPHA:90653
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Craniosy... OMIM:166250
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Split-Hand/Foot Malformation 3
Split hand, Camptodactyly, Hypoplasia of the maxilla, Renal hypoplasia, Microretrognathia OMIM:246560
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Growth delay, Hydronephrosis, Joint hypermobility, Short femur, Ventricular septal d... OMIM:617798
Fanconi Renotubular Syndrome 5
Genu valgum, Emphysema, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Lung a... OMIM:618913
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Atelectasis, Facial hypotonia, Sco... ORPHA:365
3C Syndrome
Abnormal hip bone morphology, Hypoplasia of penis, Kyphosis, Death in infancy, Pulmonic stenosis,... ORPHA:7
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Generalized aminoaciduria, Hepatocellular carcinoma, Ac... ORPHA:882
Meier-Gorlin Syndrome 1
Absent sternal ossification, Short ribs, Death in infancy, Intrauterine growth retardation, Joint... OMIM:224690
Marden-Walker Syndrome
Postnatal growth retardation, Hypospadias, Dextrocardia, Scoliosis, Camptodactyly, Kyphosis, Cong... OMIM:248700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic s... OMIM:618278
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Respiratory infections in early life, Clinodactyly of the 5th finge... ORPHA:96179
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, 2-3 toe syndactyly, Facial diplegia, Limb muscle weakness, Hypoplasia of the maxilla, ... OMIM:218000
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... ORPHA:1798
Recurrent Respiratory Papillomatosis
Atelectasis, Tracheomalacia, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respi... ORPHA:60032
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Talipes calcaneovarus, Facial hypotonia, Mandibular prognathia, Short stature, Lo... OMIM:300534
Bent Bone Dysplasia Syndrome 2
Hypoplastic iliac wing, Short ribs, Femoral bowing, Short lower limbs, Intrauterine growth retard... OMIM:620076
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Oligodactyly,... ORPHA:1307
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Left ventricular hypertrophy, Intrauterine g... OMIM:611209
Ellis Van Creveld Syndrome
Renal hypoplasia/aplasia, Short distal phalanx of finger, Intrauterine growth retardation, Neonat... ORPHA:289
Zygomycosis
Pneumothorax, Myocarditis, Pancreatitis, Mediastinal lymphadenopathy, Atelectasis, Acute infectio... ORPHA:73263
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Prominent frontal sinuses, ... OMIM:170390
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Mucopolysacchariduria, Short palm, Short stature, Atlantoaxial insta... OMIM:184095
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Generalized aminoaciduria, Delayed epiphyseal ossification, Delayed erup... OMIM:264700
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Ri... ORPHA:1652
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Retrognathia, Scoliosis, Osteomalacia, Osteoporosis, Coxa vara, Joint stiffn... ORPHA:1901
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i... OMIM:611717
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Normocytic anemia, Reduced hematocrit, Decreased glomerular fi... ORPHA:91500
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Short metacarpal, Kyphosis, Abnormal mitral valve morpholo... ORPHA:192
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciu... ORPHA:2088
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Isothenuria, Reticulocytosis, Short stature, Nephrocalcinosis, Hepatosplenomegaly, Dista... OMIM:611590
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Axial Osteomalacia
Increased bone mineral density, Renal cyst, Polycystic liver disease, Osteomalacia, Myopathy OMIM:109130
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Rickets, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated cir... ORPHA:79303
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ... ORPHA:249
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Osteopenia, Retrognathia, Atrioventricular canal defect, Hypospa... ORPHA:2409
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Sacral dimple, Hypospadias, Tracheoma... OMIM:601390
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema, Arachnodactyly, Abnormal heart morphology, Hip disloc... OMIM:614100
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Seckel Syndrome 1
Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Intrauter... OMIM:210600
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Polydactyly, Talipes, Scoliosis, Vertebral segmentation defect, Hyd... ORPHA:531151
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Short stature, Broa... ORPHA:2662
Digeorge Syndrome
Recurrent sinusitis, Splenomegaly, Abnormal thymus morphology, Patellar dislocation, Hepatic stea... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Short humerus, Hypoplastic facial bones, Intrauterine growth retardation, Long toe, Clinodactyly,... OMIM:264090
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Anemia, Elevated ... ORPHA:95455
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Retrognathia, Severe intrauterine growth retardation, Atlantoaxial abnormality, P... ORPHA:3455
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Hypercalciuria, Osteomalacia, Medullary n... ORPHA:157215
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Short long bone, Short metacarpal, J... OMIM:608940
Lujan-Fryns Syndrome
Scoliosis, Hypoplasia of the maxilla, Camptodactyly of finger, Arachnodactyly, Micrognathia, Brac... ORPHA:776
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Ab... OMIM:274000
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Mandibular prognathia, Broad me... ORPHA:1540
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Hammertoe, Atelectasis, Splenic cyst, Limb hypertonia, Tracheomalacia, Patent foram... OMIM:620371
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Portal hypertension, Short stature, Hepatic failure OMIM:210050
Sanjad-Sakati Syndrome
Postnatal growth retardation, Hypoplasia of penis, Abnormal dental enamel morphology, Severe intr... ORPHA:2323
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ... OMIM:277440
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Meier-Gorlin Syndrome 4
Emphysema, Slender long bone, Genu recurvatum, Short stature, Hypoplasia of the maxilla, Microgna... OMIM:613804
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Emphysema, Bowing of the long bones, Short stature, Crani... ORPHA:436
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Atelectasis, Elevated circulating hepatic transaminase concentration, Fu... ORPHA:319213
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Hypoplasia of the ulna, Atrioventricular canal defect, Short first ... OMIM:619135
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:600081
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Short palm, Clinodactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Tape... ORPHA:85279
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplasia/hypoplasia of the femur, Retrognathia, Broad distal phalanx of finger, Abnormal form of t... ORPHA:2636
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Hypoplasia of the maxilla, Hyperextensibility of the... OMIM:305400
Saul-Wilson Syndrome
Postnatal growth retardation, Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped e... OMIM:618150
Granulomatous Disease, Chronic, X-Linked
Air bronchogram, Liver abscess, Hepatomegaly, Lymphadenopathy, Atelectasis, Pleural effusion, Lym... OMIM:306400
Myhre Syndrome
Epispadias, Abnormal metaphysis morphology, Platyspondyly, Hypospadias, Craniofacial hyperostosis... ORPHA:2588
Van Maldergem Syndrome 2
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Hypospadias, Scoliosis, S... OMIM:615546
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma, Cholestasis, ... ORPHA:60
Sponastrime Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Biconcave vertebral b... ORPHA:93357
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
20P12.3 Microdeletion Syndrome
Short stature, Broad thumb, Hypoplasia of the maxilla, Malar flattening, Broad hallux phalanx, At... ORPHA:261295
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Death in childhood, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellu... OMIM:301108
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Vesicoureteral reflux, Short stature, Hypoplasia of the maxilla, Brachydact... OMIM:614261
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Abnormality of dental color, 2-3 toe syndactyly, Scoliosis, Persiste... ORPHA:37553
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Severe short stature, Intra... OMIM:615777
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Disproportionate short-limb short stature, Short long bone, Femoral bowing, Hyperlordosis, Kyphos... OMIM:618019
Dyskeratosis Congenita
Neoplasm of the pancreas, Bone marrow hypocellularity, Splenomegaly, Urethral stenosis, Intrauter... ORPHA:1775
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Di... ORPHA:79127
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Abnormal heart valve morphol... ORPHA:36412
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Rickets, Growth delay, Glycosuria, Hyperphosphaturia, Short sta... OMIM:615605
Neu-Laxova Syndrome
Rickets, Muscular dystrophy, Osteopenia, Retrognathia, Trismus, Scoliosis, Aplasia/Hypoplasia inv... ORPHA:2671
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Abnormality of the lower limb, Short ... OMIM:193100
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Absent extraocular muscles, Abnormality of the vertebral column, Short stature, Hypoplasia of the... OMIM:109120
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Hypospadias, Tracheomalacia, Camptodactyly, Short stature, Renal hy... ORPHA:314679
Meier-Gorlin Syndrome 3
Hypospadias, Patellar hypoplasia, Absent sternal ossification, Slender long bone, Aplasia/Hypopla... OMIM:613803
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Growth delay, Hyperphosphaturia, Tooth abscess, Osteomalacia, Bo... ORPHA:89937
Whim Syndrome
Atelectasis, Lymphadenitis, Abnormal neutrophil morphology, Bronchiectasis, Sinusitis, Recurrent ... ORPHA:51636
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Occipital Horn Syndrome
Large iliac wing, Cholestasis, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint h... ORPHA:198
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Osteoporosis, Micromelia, Growth delay, Short palm, Camptodactyly of fi... ORPHA:2176
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Glomerulopathy, Abnormal aortic valve morphology, H... ORPHA:728
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a... OMIM:613388
Frontonasal Dysplasia 1
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Campt... OMIM:136760
Nager Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Unilateral renal agenesis, Aplasia/Hypoplasia of t... ORPHA:245
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Hypoplasia of the maxilla,... ORPHA:93262
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Long foot, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplasia of the maxilla OMIM:300676
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Intrauterine... OMIM:210720
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Scoliosis, Po... OMIM:252100
Cohen Syndrome
Delayed puberty, Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sanda... ORPHA:193
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Growth delay, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Mccune-Albright Syndrome
Monostotic fibrous dysplasia, Hepatocellular adenoma, Abnormal femur morphology, Pancreatitis, Fi... ORPHA:562
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Proportionate short ... OMIM:277600
Acro-Renal-Ocular Syndrome
Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasia of the ulna, C... ORPHA:959
Myhre Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Aortic valve stenosis, Gener... OMIM:139210
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap... ORPHA:397973
Singleton-Merten Syndrome 1
Eruption failure, Expanded phalanges with widened medullary cavities, Aortic valve stenosis, Card... OMIM:182250
3Mc Syndrome 2
Postnatal growth retardation, Limited elbow movement, Caudal appendage, Abnormal vertebral morpho... OMIM:265050
Cystinosis
Delayed puberty, Rickets, Nephropathy, Portal hypertension, Short stature, Proteinuria, Renal ins... ORPHA:213
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Polyuria, Death in childhood, Hepatomegaly, Proximal tubulopathy, Death in adolescence, ... OMIM:560000
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Sacral dimple, Scoli... OMIM:213980
Meier-Gorlin Syndrome 5
Slender long bone, Short stature, Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the capi... OMIM:613805
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Clubbing, Re... ORPHA:60033
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Craniosynostosis, Patent ductus arteriosus, Scoliosis, Hemiv... OMIM:617140
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary artery stenosis, Aortic valve stenos... OMIM:615067
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Osteopenia, Retrognathia, Genu valgum, Abnormal aortic valve morp... ORPHA:2462
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ... OMIM:610921
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Kyphosis, Clinodactyly, Coxa valga, P... OMIM:301040
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasi... ORPHA:1655
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Gl... OMIM:616026
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Short ribs, Femoral bowing, Arachnodactyly, Slender metacarp... OMIM:600920
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s... OMIM:608328
Distal Deletion 15Q
Congenital diaphragmatic hernia, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... OMIM:304120
Roberts Syndrome
Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Se... ORPHA:3103
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro... OMIM:180849
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase... OMIM:613658
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Limb hypertonia, Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Arachnodactyly... ORPHA:481152
Chand Syndrome
Agenesis of maxillary incisor, Short fifth metatarsal, Atelectasis, Hydroureter ORPHA:1401
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Clinodactyly of the 5th fing... ORPHA:2769
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Rickets, Renal tubular dysfunction, Short stature, Glycosuria, ... OMIM:134600
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Hypoplasia of the maxilla, Micrognathia, Trismus, Bicuspid aortic valve, Delayed eru... OMIM:616367
Cutis Laxa, Autosomal Recessive, Type Iic
Kyphoscoliosis, Pneumothorax, Atrial septal defect, Knee flexion contracture, Patent foramen oval... OMIM:617402
Renal Tubular Acidosis, Proximal
Rickets, Hypercalciuria, Short stature, Proximal renal tubular acidosis, Osteomalacia OMIM:179830
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal ... OMIM:261540
Postaxial Acrofacial Dysostosis
Postnatal growth retardation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot mor... OMIM:263750
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619232
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Patent foramen ovale, Short stature, Metatarsus adductus, Hypoplasia of... ORPHA:293939
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Eleva... OMIM:607765
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Scoliosis, Decreased skull ossification, Short stature, Carious teeth,... ORPHA:50814
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Intrahepatic cholestasis, Hepatomegaly, Generalized aminoa... OMIM:227810
Al Kaissi Syndrome
Postnatal growth retardation, Atrial septal defect, Sacral dimple, Torticollis, Hemivertebrae, Sh... OMIM:617694
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Hypoplasia of the radius, Aplastic anemia, Unilateral renal agenesi... OMIM:610832
Lowe Oculocerebrorenal Syndrome
Kyphosis, Pathologic fracture, Joint hypermobility, Stage 5 chronic kidney disease, Hip dislocati... OMIM:309000
Stickler Syndrome
Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Kyphosis,... ORPHA:828
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu valgum, Dental malocclusion, Dislocated radial head, Genu recurvatum, Scoliosis,... OMIM:182212
Renal Tubular Acidosis Iii
Rickets, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Osteomalacia OMIM:267200
Premature Aging Syndrome, Penttinen Type
Retrognathia, Slender long bone, Delayed eruption of teeth, Recurrent fractures, Scoliosis, Tibia... OMIM:601812
Hypophosphatasia, Adult
Rickets, Abnormal foot morphology, Pathologic fracture, Carious teeth, Osteomalacia, Recurrent fr... OMIM:146300
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Delayed eruption of teeth, 4-5 fin... OMIM:257850
Hypophosphatemic Bone Disease
Short stature, Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Netherton Syndrome
Emphysema, Ectopic kidney, Short stature, Hydronephrosis, Recurrent respiratory infections, Amino... ORPHA:634
Ulbright-Hodes Syndrome
Short ribs, Severe intrauterine growth retardation, Short metacarpal, Mesomelia, Short humerus, A... ORPHA:3404
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebral bodies, Finge... ORPHA:794
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Distal renal tub... OMIM:179800
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Hypoplasia of the maxilla ORPHA:1529
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Patent ductu... OMIM:241310
Autosomal Dominant Cutis Laxa
Postnatal growth retardation, Osteopenia, Emphysema, Unilateral renal agenesis, Joint hypermobili... ORPHA:90348
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Retrognathia, Perimembranous ventricular septal defect, Hepatomegal... ORPHA:83617
Bartsocas-Papas Syndrome 1
Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,... OMIM:263650
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Limitation of joint mobility, Hypoplasia of the maxilla, Camptodac... ORPHA:178303
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Hypoplasia of the maxilla, Lim... OMIM:619142
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Multiple bladder diverticula, Emphysema, Pathologic fracture, Recurrent urinary tra... ORPHA:90349
Loeys-Dietz Syndrome 4
Pneumothorax, Retrognathia, Emphysema, Spondylolisthesis, Torticollis, Scoliosis, Arachnodactyly,... OMIM:614816
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Rickets, Increased susceptibility to fractures, Reduced bone mi... ORPHA:18
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl... OMIM:101600
Birt-Hogg-Dubé Syndrome
Pneumothorax, Renal cell carcinoma, Pulmonary sequestration, Emphysema ORPHA:122
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones... OMIM:269150
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Nephrocalcinosis, Congenita... ORPHA:2044
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis ORPHA:207
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Emphysema,... OMIM:181000
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Sandal gap, Joint stiffness, Elevated he... OMIM:619127
Marfan Syndrome
Kyphoscoliosis, Narrow foot, Retrognathia, Spondylolisthesis, Arachnodactyly, Equinus calcaneus, ... OMIM:154700
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Preaxial hand polydacty... ORPHA:79113
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, Joint hypermobility, Hepatic steatosis, Jau... OMIM:277900
Bare Lymphocyte Syndrome, Type I
Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
X-Linked Intellectual Disability, Porteous Type
Short stature, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Splenomegaly, Stage 5 chronic kidney disease, Myopath... OMIM:219800
Vater/Vacterl Association
Ectopic kidney, Syndactyly, Absent radius, Intrauterine growth retardation, Hypoplasia of the rad... OMIM:192350
Fabry Disease
Delayed puberty, Abnormal endocardium morphology, Abnormal renal tubule morphology, Abnormal femu... ORPHA:324
Ear-Patella-Short Stature Syndrome
Epispadias, Retrognathia, Clinodactyly of the 5th finger, Hypospadias, Craniosynostosis, Hypoplas... ORPHA:2554
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytopenia, Bronc... OMIM:242700
Keutel Syndrome
Emphysema, Premature fusion of phalangeal epiphyses, Epiphyseal stippling, Short hallux, Recurren... OMIM:245150
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Goldberg-Shprintzen Syndrome
Clinodactyly of the 5th finger, Limb hypertonia, Vesicoureteral reflux, Hypoplasia of the maxilla... OMIM:609460
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Pes planus OMIM:618302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Emphysema, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Pulmonary fibr... OMIM:620365
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Delayed eruption of teeth, Mandibular prognat... ORPHA:87
Hypomagnesemia 3, Renal
Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Ricket... OMIM:248250
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Posterior Urethral Valve
Postnatal growth retardation, Retrognathia, Urinary incontinence, Unilateral renal dysplasia, Rec... ORPHA:93110
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Short stature, Coronal craniosynostosis... ORPHA:2095
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Arachnodactyly, Abnormal heart morphology, Absent thumb, Intrauterine growth reta... ORPHA:500150
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Kyphosis, Bilateral talipes equinovarus, Dilatation of the renal pelvis, Micrognathi... OMIM:619708
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature, Glycosuria, Stage 5 chronic kidney disease, Renal Fa... OMIM:268315
Nablus Mask-Like Facial Syndrome
Retrognathia, Sandal gap, Short hallux, Craniosynostosis, Tapered finger, Camptodactyly, Hypoplas... OMIM:608156
Common Variable Immunodeficiency
Pneumonia, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Elevated circulating hep... ORPHA:1572
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Bi... OMIM:268300
Cerebrocostomandibular Syndrome
Postnatal growth retardation, 10 pairs of ribs, Ectopic kidney, Clinodactyly of the 5th finger, 1... OMIM:117650
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:620157
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Rickets, Elevated circulating hepatic transaminase... OMIM:212750
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Cog1-Cdg
Postnatal growth retardation, Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Talipe... ORPHA:263508
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Craniosynostosis, Mandibular prognathia, Abnormal dentin morphology, Upp... ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Micrognathia, Hypoplasia of... OMIM:309520
Crouzon Syndrome
Lambdoidal craniosynostosis, Mandibular prognathia, Coronal craniosynostosis, Hypoplasia of the m... OMIM:123500
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Arachnodactyly, Bladder diverticulum, Joint hypermobi... OMIM:219100
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Tracheobronchomalac... OMIM:616462
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Cleft Velum
Hypoplasia of the maxilla, Aspiration pneumonia ORPHA:99772
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Tracheomalacia, Patent ductus arteriosus... ORPHA:95430
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Short femur, Short humerus, Tapered finger OMIM:618367
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Mitral valve prolapse, C... OMIM:130050
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Frontorhiny
Scoliosis, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly of finger, Brach... ORPHA:391474
Marfan Syndrome
Limited elbow movement, Retrognathia, Reduced bone mineral density, Spondylolisthesis, Kyphosis, ... ORPHA:558
Axenfeld-Rieger Syndrome
Growth delay, Hypospadias, Hypoplasia of the maxilla ORPHA:782
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, R... ORPHA:2399
Marshall Syndrome
Genu valgum, Hypoplastic frontal sinuses, Short stature, Hypoplasia of the maxilla, Micrognathia,... ORPHA:560
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Mandibular prognathia, Abnormal heart morphology, Hypospadias OMIM:601499
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Hypoplasia of the musculature, Scoliosis, Mandibular prognathia, Hypopl... ORPHA:1101
Proteus Syndrome
Macrodactyly, Bronchogenic cyst, Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal... ORPHA:744
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Elsahy-Waters Syndrome
Agenesis of incisor, Supernumerary tooth, Penoscrotal hypospadias, Hypospadias, Cervical C2/C3 ve... OMIM:211380
Treacher-Collins Syndrome
Retrognathia, Abnormality of the vertebral column, Hypoplasia of penis, Abnormality of bone miner... ORPHA:861
Meier-Gorlin Syndrome 6
Delayed puberty, Emphysema, Sandal gap, Tracheobronchomalacia, Short middle phalanx of finger, Se... OMIM:616835
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Bone cyst, Nephro... ORPHA:797
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Hypospadias, Short stature, Carious teeth, Hypoplasia of the maxill... OMIM:129400
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio... OMIM:600740
Angelman Syndrome
Hypoplasia of the maxilla, Scoliosis, Macroglossia, Mandibular prognathia OMIM:105830
Cowden Syndrome 5
Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis OMIM:615108
Craniofacial Microsomia 1
Genu valgum, Ectopic kidney, Patent ductus arteriosus, Scoliosis, Vesicoureteral reflux, Vertebra... OMIM:164210
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Emphysema, Talipes calcaneovarus, Abnormal cardiac ventricle morphology... ORPHA:284979
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Hydroureter, Duplicated collecting system, Hypoplasia of the maxilla, Vesicou... OMIM:604292
Cowden Syndrome 6
Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis OMIM:615109
Cowden Syndrome 1
Palmoplantar hyperkeratosis, Scoliosis, Kyphosis, Hypoplasia of the maxilla, Micrognathia, Lympho... OMIM:158350
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Rickets, Hypophosphatemic rickets, Renal phosphate wasting OMIM:612089
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Death in childhood, Emp... OMIM:614437
Viss Syndrome
Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Coronary sinus enlargement, Kyphosis... OMIM:619472
Branchiooculofacial Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Proximal placement of thumb, Hyposp... OMIM:113620
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Generalized Arterial Calcification Of Infancy
Cortical nephrocalcinosis, Fused cervical vertebrae, Hypophosphatemic rickets, Osteomalacia, Abno... ORPHA:51608
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger OMIM:167730
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental malocclusion, Agenesis o... ORPHA:199306
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Hypoplasia of the maxilla, Arachnodactyly, Joi... ORPHA:96129
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Hypoplasia of the maxilla, Vesicoureteral reflux, Spli... OMIM:129900
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Rickets, Growth delay, Glycosuria, Hyperphosphaturia, Abnormal ... ORPHA:411629
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microretrognathia ORPHA:228396
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Kyphosis, Generalized osteoporosis, Joint hypermob... OMIM:259050
Sotos Syndrome
Ureteral duplication, Kyphosis, Prolonged neonatal jaundice, Abnormal heart morphology, Congenita... ORPHA:821
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, 2-3 toe syndactyly, Hypoplasia of the maxilla, Patent ductus arteriosus, Palmoplanta... OMIM:106260
Nocardiosis
Pneumothorax, Liver abscess, Emphysema, Pleuritis, Abnormal heart valve morphology, Pleural effus... ORPHA:31204
Hypercholanemia, Familial 1
Rickets OMIM:607748
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Ventricular hypertrophy, Abnormality of the pulmonary artery, Mitral valve calcificati... ORPHA:363618
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Bronchitis, Decreased proportion of naive T cells, Os... OMIM:619381
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Iron deficiency anemia, Osteoporosis, Growth delay, Exocrine pancreatic insufficiency, O... ORPHA:309031
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal calcium clearance to creatin... ORPHA:405
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Growth delay, Camptodactyly of finger, Hypoplasia of the maxilla, Toe syndac... ORPHA:920
Holoprosencephaly 9
Agenesis of incisor, Postaxial hand polydactyly, Short stature, Hypoplasia of the maxilla, Hypopl... OMIM:610829
Craniosynostosis And Dental Anomalies
Supernumerary tooth, Lambdoidal craniosynostosis, Dental malocclusion, Delayed eruption of teeth,... OMIM:614188
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Pelvic girdle muscle atrophy ORPHA:3044
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Sinusitis, Hypoplasia of the maxilla ORPHA:238468
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Ca... ORPHA:306542
Barber-Say Syndrome
Clinodactyly of the 5th finger, Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of t... OMIM:209885
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening OMIM:122880
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Hypospadias OMIM:180500

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdk10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdk10.

No publications found that use IMPC mice or data for Cdk10.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cdk10tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cdk10tm82740(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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