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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
Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Pes plan... OMIM:617694

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... OMIM:616897
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femora... OMIM:619598
Acromesomelic Dysplasia 2A
Short tibia, Distal tibiofibular synostosis, Aplasia/Hypoplasia of the patella, Short foot, Dispr... OMIM:200700
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal sac... ORPHA:1988
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vert... ORPHA:1190
Osteogenesis Imperfecta, Type X
Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Osteopen... OMIM:613848
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Muscle fiber atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Incre... ORPHA:228302
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... ORPHA:93323
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... OMIM:100800
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Dis... ORPHA:94068
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... ORPHA:2357
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Hepatic failure, Cardiomyopathy, Stage 5 chronic kidney disease, Rhabdomyolysis,... ORPHA:157
Crome Syndrome
Short stature, Renal tubular epithelial necrosis OMIM:218900
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Short neck, Bro... ORPHA:56304
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Axial muscle atrophy, Decreased cervical spi... ORPHA:254361
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, ... ORPHA:1860
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes equinovarus, Short... OMIM:108720
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep... ORPHA:228308
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Enlarged metaphyses, Platyspondyly, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Epiphyseal Dysplasia, Multiple, 1
Severe short stature, Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, ... OMIM:132400
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... ORPHA:79404
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun... ORPHA:99642
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Ventricular septal defect, Short n... OMIM:269860
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Retrognathia, Atelectasis, Glandular hypospadias, Pen... OMIM:300219
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Rheumatoid arthritis, Unilateral renal hypoplasia, Renal ... ORPHA:49041
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short... OMIM:600121
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Dysplasia of the femoral h... ORPHA:536467
Asbestos Intoxication
Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick... ORPHA:2302
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Osteopenia, Multiple bladder diverticula, Tracheomalacia, Perip... OMIM:613177
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious... OMIM:271630
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hy... OMIM:307800
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Micropenis, Hypo... OMIM:612447
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Hydroxyprolinuria, Sclerosi... OMIM:602080
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Short tibia, Sanda... OMIM:607143
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Short toe, Postnatal growth retardation, Intraute... OMIM:616651
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa... OMIM:271530
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Pulmonary situs ambi... ORPHA:244
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Ventricular septal... OMIM:134780
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Death in childhood, Hip contr... OMIM:210710
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Recurrent urinary tract infect... OMIM:620494
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Chronic sinusitis, Bronchiectasis, Atelectasis OMIM:615294
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Pulmonary edema, Hematuria, Decreased urine outpu... ORPHA:31826
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration,... ORPHA:70589
Farber Disease
Hepatosplenomegaly, Abnormality of the knee, Short toe, Lymphadenopathy, Arthritis, Anemia, Flexi... ORPHA:333
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... OMIM:108721
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Postnatal growth retardation, Ventricular septal defect, Stipplin... ORPHA:79345
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Bilateral renal atrophy, Ankle swelling, Hypoplasia of the maxilla, Carpal osteolysis... OMIM:166300
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa... ORPHA:439822
Roifman Syndrome
Epiphyseal dysplasia, Irregular capital femoral epiphysis, Recurrent pneumonia, Biconvex vertebra... ORPHA:353298
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300554
Kyphomelic Dysplasia
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micro... OMIM:211350
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... ORPHA:896
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Herniation of intervertebral nuc... OMIM:601216
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Infancy onset short-trunk short stature, Joint contracture of the hand... ORPHA:1159
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
C1Q Deficiency 2
Atelectasis, Arthritis, Anemia, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauterine growth retardati... ORPHA:70588
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... OMIM:300009
Geroderma Osteodysplasticum
Severe short stature, Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Femoral bowing, Incre... OMIM:231070
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... ORPHA:950
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Hepatic steatosis, Rhabdomyolysis, 3-Methylglutac... ORPHA:17
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Ventricular septal defect, Scoliosis, Short femur OMIM:601357
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Ventricular septal defect, Talipes, Short neck, Pes plan... ORPHA:508488
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Abnormal peritoneum morphology, Abnormality of the diaphragm,... ORPHA:400
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, D... ORPHA:763
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Osteol... ORPHA:93160
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Delayed eruption of teeth, Atelectasis, Osteomyelitis, Joint hypermobility, Eosinophi... ORPHA:2314
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat... OMIM:610978
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ... OMIM:101800
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Neurodegeneration And Seizures Due To Copper Transport Defect
Pulmonary hypoplasia, Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Pneu... OMIM:620306
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Nephrocalcinosis, Delayed eruption of teeth, Micrognathia, Patent... OMIM:300990
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Fractured rib, Osteopenia, Metaphyseal spurs, Femoral bowing, Recurren... OMIM:618188
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Osteomalacia, Rickets of the lower limbs, Sclerotic vertebral endplates,... ORPHA:289176
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Ground-gla... OMIM:620233
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Three M Syndrome 1
Short 5th finger, Hypospadias, Mandibular prognathia, Slender long bone, Postnatal growth retarda... OMIM:273750
Martsolf Syndrome 1
Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint hypermobility, Short... OMIM:212720
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega... OMIM:602557
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Postnatal growth retardation, Intrauterine growth ret... OMIM:616145
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Diastasis recti, Splenomegaly, Kyphoscolio... OMIM:608149
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Osteomalacia, Micrognathia, Genu valgum, Hematuria, Proximal renal tubular acidosi... ORPHA:534
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G... OMIM:253220
X-Linked Hypophosphatemia
Renal phosphate wasting, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Too... ORPHA:89936
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of the maxilla, Slender long bone... OMIM:608154
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypereosinophilia, Parenchymal consolidation, Pleural effusion, Leukocytosis, Abnorm... ORPHA:2902
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Postnatal growth retardation, Joint stiffness, Lymphopenia, L... OMIM:620210
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand p... OMIM:277170
Cutis Laxa-Marfanoid Syndrome
Limitation of joint mobility, Emphysema, Abnormal heart valve morphology, Congenital diaphragmati... ORPHA:171719
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ... ORPHA:289157
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Metaphyseal irregularity, Calcium nephr... OMIM:241530
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Lumbar hyperlordos... OMIM:216550
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Urinary incontinence, Hypoplasia of the maxilla, Lower limb muscl... OMIM:300266
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Patchy distorti... ORPHA:1248
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Delayed eruption of te... ORPHA:915
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Chronic sinusitis, Absent f... OMIM:244400
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Pulm... ORPHA:538
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Abno... OMIM:616733
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Shor... ORPHA:567
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... ORPHA:2839
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P... ORPHA:1106
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Genu valgum, Stage 5 chronic kidney disease, Hypophosphatem... OMIM:618913
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis, Atelectasis ORPHA:922
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Atelectasis, Absent muscle fiber merosin, Abnormality of the te... ORPHA:258
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Pn... OMIM:612387
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Chordee, Bro... OMIM:166250
Split-Hand/Foot Malformation 3
Renal hypoplasia, Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly OMIM:246560
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiph... ORPHA:90653
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Joint hypermobility, Hydronephrosis, Ventricular septal defect, Micropenis, Growth d... OMIM:617798
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Abnormality of the ankle, Contractures of the large joints, Preaxial hand polydactyl... ORPHA:96179
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Disproportionate short-trunk sh... ORPHA:457395
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Postnatal growth retardation, Micrognathia, Abnormal mi... ORPHA:7
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Atelectasis, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Respira... ORPHA:365
Marden-Walker Syndrome
Hypospadias, Joint contracture of the hand, Renal hypoplasia, Congenital contracture, Decreased m... OMIM:248700
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Hypoplasia of the maxilla, Skeletal muscle atrophy, Clinodactyly... ORPHA:251061
Meier-Gorlin Syndrome 1
Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Micrognathia, Genu valgum... OMIM:224690
Dent Disease
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, H... ORPHA:1652
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... ORPHA:882
Senior-Loken Syndrome 9
Osteopenia, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Chro... OMIM:616629
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Skeletal muscle atrophy, Limb muscle weakness, Respiratory tract infec... OMIM:218000
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
Ellis Van Creveld Syndrome
Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Renal hypopla... ORPHA:289
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular ... ORPHA:91500
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Micrognathi... OMIM:611209
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, A... ORPHA:60032
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Recurrent upper respiratory tract infections, Cholelithiasis, Hyp... OMIM:300534
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Atrial septal defect, Hepat... OMIM:620076
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, ... ORPHA:1307
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, ... OMIM:618278
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Zygomycosis
Nephritis, Hepatitis, Atelectasis, Osteolysis, Pleural effusion, Parenchymal consolidation, Renal... ORPHA:73263
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Is... OMIM:611590
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Axial Osteomalacia
Osteomalacia, Myopathy, Renal cyst, Increased bone mineral density, Polycystic liver disease OMIM:109130
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia, Rickets, Glycosuria, Hepati... ORPHA:2088
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, Short foot, Short metacarpal, Hypoplasia of the maxilla... OMIM:170390
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Muc... OMIM:184095
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... OMIM:300106
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, General... OMIM:264700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... ORPHA:79303
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Rickets, Retrognathia, Osteomalacia, Avascular necrosis of the ... ORPHA:1901
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Postnatal growth retardation, Hypoplastic iliac wing, Carpal bon... OMIM:611717
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Abnormal mitral valve morphology, Pes planus... ORPHA:192
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo... ORPHA:249
Lowry-Maclean Syndrome
Osteopenia, Hypoplasia of the maxilla, Abnormality of the abdominal organs, Growth delay, Retrogn... ORPHA:2409
Van Maldergem Syndrome 1
Hypospadias, Renal hypoplasia, Osteopenia, Hypoplasia of the maxilla, Clinodactyly, Tracheomalaci... OMIM:601390
9Q21.13 Microdeletion Syndrome
Abnormal heart morphology, Postnatal growth retardation, Vertebral segmentation defect, Talipes, ... ORPHA:531151
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Medullary nephrocalcinosis, Hypophosphatemic rickets, Reduced ... ORPHA:157215
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Pancytopenia, Micrognathia, Talipes, Pes planus, D... OMIM:210600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Moderate albuminuria, Acute kidney injury, Abnormal penis morphology, Elevated circula... ORPHA:95455
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Hip disloc... OMIM:614100
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Hepatic steatosis, Synovitis, Hypospadias, Irregular sclerotic endplates, Hypoplasti... ORPHA:3455
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Clinodactyly, Micrognathia, Talipes equinovarus, Short neck, Large hands, Hypospadia... OMIM:264090
Digeorge Syndrome
Micrognathia, Intervertebral disk degeneration, Hepatic steatosis, Ventricular septal defect, Pat... OMIM:188400
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies... OMIM:608940
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Microretrognathia, Hepatic sinusoidal dilatation, Tracheomalacia, Atelectasis, Splenic cyst, Fing... OMIM:620371
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Joint hypermobility, Arachnodac... ORPHA:776
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Abnormal dental enamel morphology, Postnatal growth retardatio... ORPHA:2323
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Hepatic failure, Emphysema, Portal hypertension, Cirrhosis, Short stature OMIM:210050
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Metaphyseal irregularity, Carious... OMIM:277440
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Meier-Gorlin Syndrome 4
Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Emphysema, Intrauterine growth ret... OMIM:613804
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Micrognathia, Short neck, Abnormal metacarpal morphology, Large hands, Aplasia/hypo... ORPHA:2636
Lujo Hemorrhagic Fever
Oliguria, Elevated circulating hepatic transaminase concentration, Atelectasis, Stiff neck, Lymph... ORPHA:319213
Hypophosphatasia
Emphysema, Bowing of the long bones, Anemia, Short stature, Craniosynostosis, Abnormal metaphysis... ORPHA:436
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Postnatal growth retardation, Short first me... OMIM:619135
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Jaundice, Cirrhosis, Hepatomegaly... ORPHA:60
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Fibular bo... OMIM:600081
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Hypoplasia of the maxilla, Micro... OMIM:301108
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Short stat... ORPHA:85279
Myhre Syndrome
Severe short stature, Platyspondyly, Hypospadias, Abnormal penis morphology, Abnormal epiphysis m... ORPHA:2588
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Hypospadias, Osteop... OMIM:615546
Andersen-Tawil Syndrome
Small hand, Scoliosis, Renal hypoplasia, Hypoplasia of the maxilla, Dilated cardiomyopathy, Persi... ORPHA:37553
Aarskog-Scott Syndrome
Short 5th finger, Cervical spine hypermobility, Hypoplasia of the odontoid process, Hypoplasia of... OMIM:305400
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Atelectasis, Osteomyelitis, Impaired oxidative burst, Pleural... OMIM:306400
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... ORPHA:93357
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Vesicoureteral reflux, P... OMIM:614261
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Postnatal growth retardation, Hypoplastic i... ORPHA:96334
Hypocomplementemic Urticarial Vasculitis
Emphysema, Abnormal heart valve morphology, Pleural effusion, Renal insufficiency, Splenomegaly, ... ORPHA:36412
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Broad thumb, Malar flattening, Atrial septal defect, Short stature, Br... ORPHA:261295
Dyskeratosis Congenita
Carious teeth, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Hypoplasia of the ma... ORPHA:1775
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperp... OMIM:615605
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Broad foot, Short neck, Pes plan... OMIM:615777
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Osteopenia, Skeletal m... ORPHA:2671
Cerebrofacioarticular Syndrome
Osteopenia, Renal hypoplasia, Hypoplasia of the maxilla, Caudal appendage, Tracheomalacia, Abnorm... ORPHA:314679
Meier-Gorlin Syndrome 3
Recurrent pneumonia, Microretrognathia, Hypoplasia of the maxilla, Slender long bone, Patellar hy... OMIM:613803
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormality of the vertebral column, Malar flattening, Short stature, ... OMIM:109120
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lowe... OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Iron deficiency anemia, Tooth abscess, Growth delay, Bo... ORPHA:89937
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Hepatomegaly, Cirrhosis, Intrahepatic cholesta... OMIM:211600
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Osteopenia, Proximal tubulopathy, Rickets, Gl... OMIM:613388
Relapsing Polychondritis
Limitation of joint mobility, Hepatitis, Atelectasis, Renal insufficiency, Abnormal aortic valve ... ORPHA:728
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Genu valgum, Pes planus, Abnormal... ORPHA:198
Nager Syndrome
Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi... ORPHA:245
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Hypercalciuria, Growth delay OMIM:602722
Infantile Systemic Hyalinosis
Severe short stature, Osteopenia, Micromelia, Aplasia/Hypoplasia of the thymus, Camptodactyly of ... ORPHA:2176
Frontonasal Dysplasia 1
Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge... OMIM:136760
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Postnatal... ORPHA:959
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal meta... ORPHA:93262
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Postnatal growth retardation, Hypoplastic i... OMIM:210720
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Long foot, Scoliosis, Mandibular prognathia, Kyphosis OMIM:300676
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydacty... OMIM:252100
Cohen Syndrome
Hypoplasia of the maxilla, Finger syndactyly, Sandal gap, Hypoplasia of the zygomatic bone, Intra... ORPHA:193
Mccune-Albright Syndrome
Renal phosphate wasting, Bone marrow hypocellularity, Abnormal facial skeleton morphology, Aneury... ORPHA:562
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
3Mc Syndrome 2
Abnormal vertebral morphology, Hypoplasia of the musculature, Caudal appendage, Abnormality of th... OMIM:265050
Cystinosis
Nephropathy, Aminoaciduria, Rickets, Renal insufficiency, Portal hypertension, Myopathy, Renal tu... ORPHA:213
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Rickets, Death in childhood, Death in adolescence, Polyuria, Hepatomegaly, ... OMIM:560000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo... OMIM:182250
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Clinodactyly, Slender long bone, Hypoplasia of the capital femoral epi... OMIM:613805
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Pes... OMIM:213980
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Recurrent lower res... ORPHA:60033
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, Postnatal growth retardation, Ventricular septal defect, Absent frontal sinuses, Ta... OMIM:301040
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Postnatal growth retardation, Hepatosplenomegaly, M... ORPHA:1655
Zttk Syndrome
Unilateral renal agenesis, Small hand, Scoliosis, Hypoplasia of the maxilla, Horseshoe kidney, In... OMIM:617140
Shprintzen-Goldberg Syndrome
Osteopenia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Retrognathia, Campt... ORPHA:2462
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Spinal canal steno... OMIM:277600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Rickets... OMIM:616026
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Thoracic kyphosis, Intervertebral space n... OMIM:609162
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hypoplasia of the max... OMIM:620099
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Dilatation of the renal pe... OMIM:600920
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Chand Syndrome
Short fifth metatarsal, Hydroureter, Agenesis of maxillary incisor, Atelectasis ORPHA:1401
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Pancytopenia, Hepatic steatosis, Cirrhosis, Bile duct proliferation, Osteopenia, Ric... OMIM:613658
Distal Deletion 15Q
Small hand, Multicystic kidney dysplasia, Postnatal growth retardation, Micrognathia, Genu valgum... ORPHA:1596
Rubinstein-Taybi Syndrome 1
Broad thumb, Postnatal growth retardation, Hypoplastic iliac wing, Micrognathia, Mitral valve pro... OMIM:180849
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Broad thumb, Skeletal muscle atrophy, Broad hallux, Wrist hypermobilit... ORPHA:481152
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Mandibular prognathia, Bifid femur, Carious teeth, Abnormal form of the verteb... ORPHA:2769
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Hydroureter, Micrognathia, Delayed eruption of primary teeth, Bicuspid... OMIM:616367
Cutis Laxa, Autosomal Recessive, Type Iic
Hand clenching, Nephrocalcinosis, Hypoplasia of the maxilla, Biventricular hypertrophy, Overlappi... OMIM:617402
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Aplastic anemia, Horseshoe kidney, Postnata... OMIM:610832
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Abnormal foot morphology, Postn... OMIM:263750
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Hypercalciuria, Proximal renal tubular acidosis, Short stature OMIM:179830
Renal Tubular Acidosis Iii
Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Short finger, Elbo... OMIM:608328
Peters-Plus Syndrome
Square pelvis bone, Postnatal growth retardation, Micrognathia, Broad foot, Limited elbow movemen... OMIM:261540
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ... OMIM:309000
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Beta 2-microglobulinu... OMIM:227810
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Posterior wedging of vertebral bodies, High iliac wing, Carious teeth,... ORPHA:50814
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Distal renal tubular acidosis, Impaired urin... OMIM:179800
Al Kaissi Syndrome
Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Pes plan... OMIM:617694
Stickler Syndrome
Micrognathia, Genu valgum, Mitral valve prolapse, Arachnodactyly, Hip dislocation, Protrusio acet... ORPHA:828
Netherton Syndrome
Aminoaciduria, Emphysema, Hydronephrosis, Short stature, Recurrent respiratory infections, Ectopi... ORPHA:634
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Osteopenia, Joint contracture of the hand, Hypoplasia of the maxilla, Dental mal... OMIM:182212
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Delayed eruption of... OMIM:601812
Hypophosphatasia, Adult
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased su... OMIM:146300
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Rickets, Bowing of the legs OMIM:146350
Ulbright-Hodes Syndrome
Postnatal growth retardation, Fibular aplasia, Micrognathia, Humeroradial synostosis, Talipes equ... ORPHA:3404
Autosomal Dominant Cutis Laxa
Genu recurvatum, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, ... ORPHA:90348
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... ORPHA:18
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral... ORPHA:90349
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:794
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger ORPHA:1529
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Retrog... ORPHA:83617
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Abse... OMIM:263650
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Clinodactyly, Patent for... ORPHA:293939
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Short neck, Atrial septal defect, Br... ORPHA:2044
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration, Renal cell carcinoma ORPHA:122
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Limitation of joint mobility, Sandal gap, Finger syndactyly, Camptodac... ORPHA:178303
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ... OMIM:619142
Schinzel-Giedion Midface Retraction Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short ne... OMIM:269150
Loeys-Dietz Syndrome 4
Retrognathia, Emphysema, Spondylolisthesis, Malar flattening, Joint hypermobility, Arachnodactyly... OMIM:614816
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Fabry Disease
Nephropathy, Emphysema, Hypertrophic cardiomyopathy, Abnormal femur morphology, Renal insufficien... ORPHA:324
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Postnatal growth retardation, Dysplasia of the femoral head, Microgna... OMIM:619127
Cystinosis, Nephropathic
Genu valgum, Myopathy, Hematuria, Hepatomegaly, Aminoaciduria, Generalized aminoaciduria, Rickets... OMIM:219800
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Wilson Disease
Osteomalacia, Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis, Elevated... OMIM:277900
Crouzon Syndrome
Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosynostosis ORPHA:207
Marfan Syndrome
Decreased muscle mass, Premature osteoarthritis, Micrognathia, Mitral valve prolapse, Arachnodact... OMIM:154700
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Emphysema, Pancytopenia, Pericardial effusion, Pleural effusion, Spl... OMIM:181000
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Micrognathia, Malar flattening, Atrial sept... ORPHA:79113
Vater/Vacterl Association
Abnormal vertebral morphology, Postnatal growth retardation, Ventricular septal defect, Radioulna... OMIM:192350
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Bronchiectasis OMIM:604571
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
X-Linked Intellectual Disability, Porteous Type
Short stature, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Ear-Patella-Short Stature Syndrome
Severe short stature, Aplastic clavicle, Hypospadias, Hypoplasia of the maxilla, Abnormal epiphys... ORPHA:2554
Goldberg-Shprintzen Syndrome
Small hand, Hypoplasia of the maxilla, Vesicoureteral reflux, Ventricular septal defect, Short ne... OMIM:609460
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia... OMIM:242700
Keutel Syndrome
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... OMIM:245150
Hypomagnesemia 3, Renal
Chronic kidney disease, Genu valgum, Hypomature enamel, Hematuria, Macroscopic hematuria, Short m... OMIM:248250
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
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, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia, Pulmonary fibr... OMIM:620365
Apert Syndrome
Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Delayed er... ORPHA:87
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septa... OMIM:241310
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Osteomala... ORPHA:3337
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Kyphosis, Dilatation of the renal pelvis, Lymphopenia, Overlapping finger... OMIM:619708
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Short stature, Recur... OMIM:268315
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Hypoplasia of the maxilla, Sandal gap, Clinodactyly, Retrognathia,... OMIM:608156
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Arachnodactyly, Atrial septal defect, Bilateral renal dysplasia, Hypoplasia o... ORPHA:500150
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Emphysema, Lymphopenia, Abnor... ORPHA:1572
Branchioskeletogenital Syndrome
Hypoplasia of the maxilla, Carious teeth, Abnormality of the vertebral spinous processes, Uretera... ORPHA:1299
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Mandibular prognathia OMIM:620157
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Carious teeth, Elbow flexion contracture, Postnatal growth retardatio... OMIM:117650
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathia, Ventricular... OMIM:268300
Celiac Disease, Susceptibility To, 1
Elevated circulating hepatic transaminase concentration, Rickets, Postnatal growth retardation, M... OMIM:212750
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Cog1-Cdg
Osteopenia, Rhizomelia, Postnatal growth retardation, Hepatosplenomegaly, Micrognathia, Butterfly... ORPHA:263508
Cutis Laxa, Autosomal Recessive, Type Ia
Peripheral pulmonary artery stenosis, Emphysema, Congenital diaphragmatic hernia, Joint hypermobi... OMIM:219100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Broad thumb, Micrognathia, Joint hypermobility, Arachnodactyly, Ventri... OMIM:309520
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormality of ... OMIM:123500
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Pulmon... OMIM:616462
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Cleft Velum
Hypoplasia of the maxilla, Aspiration pneumonia ORPHA:99772
Ehlers-Danlos Syndrome, Vascular Type
Mitral valve prolapse, Talipes equinovarus, Pulmonary bulla, Finger joint hypermobility, Diffuse ... OMIM:130050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short stature, Tapered finger, Short humerus, Short femur OMIM:618367
Axenfeld-Rieger Syndrome
Hypospadias, Hypoplasia of the maxilla, Growth delay ORPHA:782
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Frontorhiny
Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Br... ORPHA:391474
Marfan Syndrome
Micrognathia, Mitral valve prolapse, Limited elbow movement, Arachnodactyly, Pes planus, Protrusi... ORPHA:558
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasia of the maxilla, Abnormal foo... ORPHA:2095
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Hypoplasia of the maxilla, Mandibular prognathia, Hypospadias OMIM:601499
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Severe postnatal growth retardation, Recurrent upper respiratory tract... ORPHA:2399
Marshall Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum, Malar fla... ORPHA:560
Proteus Syndrome
Pulmonary cyst, Carious teeth, Finger syndactyly, Decreased muscle mass, Myofibrillar myopathy, A... ORPHA:744
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Hepatomegaly, Tubulointerstitial neph... ORPHA:797
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Hypoplasia of the musculature, Hypoplasia of the maxilla, Mandibular p... ORPHA:1101
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insufficiency, Nephrolit... OMIM:600740
Elsahy-Waters Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Delayed eruption of teeth,... OMIM:211380
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Hypoplasia of the maxilla, Carious teeth, Palmoplantar keratoderma,... OMIM:129400
Meier-Gorlin Syndrome 6
Severe short stature, Microretrognathia, Sandal gap, Emphysema, Tracheobronchomalacia, Patellar a... OMIM:616835
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Tr... ORPHA:95430
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Duplicated collecting system, Hypoplasia of the maxilla, Toe syndactyly, Hydroureter, Hypoplastic... OMIM:604292
Treacher-Collins Syndrome
Hypoplasia of the maxilla, Abnormality of the vertebral column, Hypoplasia of the zygomatic bone,... ORPHA:861
Angelman Syndrome
Macroglossia, Hypoplasia of the maxilla, Mandibular prognathia, Scoliosis OMIM:105830
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Pulmonary hypoplasia, Block vertebrae, Multicystic kidney dyspl... OMIM:164210
Cowden Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis, Scoliosis, Kyphosis OMIM:615108
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Emphysema, Micrognathia, Mitral valve prolapse, Joint hype... ORPHA:284979
Cowden Syndrome 6
Hypoplasia of the maxilla, Micrognathia, Palmoplantar hyperkeratosis, Scoliosis, Kyphosis OMIM:615109
Cowden Syndrome 1
Hypoplasia of the maxilla, Lymphopenia, Micrognathia, Palmoplantar hyperkeratosis, Scoliosis, Kyp... OMIM:158350
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Osteomalacia, Abnormal hip ... ORPHA:51608
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Emphysema, Micrognathia, Co... OMIM:614437
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Renal phosphate wasting, Hypophosphatemic rickets, Rickets OMIM:612089
Branchiooculofacial Syndrome
Hypospadias, Short thumb, Renal agenesis, Preaxial hand polydactyly, Elbow flexion contracture, P... OMIM:113620
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hypoplasia of the maxilla, Toe syndactyly, Hydroureter, Ureterocele... OMIM:129900
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla OMIM:167730
Viss Syndrome
Micrognathia, Genu valgum, Mitral valve prolapse, Contracture of the proximal interphalangeal joi... OMIM:619472
Infantile Nephropathic Cystinosis
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tu... ORPHA:411629
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... ORPHA:199306
Distal Deletion 19P
Hypoplasia of the maxilla, Ventricular septal defect, Arachnodactyly, Joint hypermobility, Long t... ORPHA:96129
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Sotos Syndrome
Abnormal vertebral morphology, Small cell lung carcinoma, Hip contracture, Ventricular septal def... ORPHA:821
Primrose Syndrome
Genu valgum, Hip contracture, Irregular vertebral endplates, Hypoplasia of the maxilla, Increased... OMIM:259050
Nocardiosis
Pneumonia, Lymphadenitis, Emphysema, Osteomyelitis, Abnormal heart valve morphology, Pleural effu... ORPHA:31204
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Emphysema, Papillary renal cell carcinoma, Abnorm... ORPHA:363618
Hypercholanemia, Familial 1
Rickets OMIM:607748
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyl... OMIM:106260
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Rickets OMIM:219900
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Reduced natural killer cell count, Bronchitis, Hepatitis, Osteomalacia, Osteomyelitis,... OMIM:619381
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Osteoporosis, G... ORPHA:309031
Familial Hypocalciuric Hypercalcemia
Hypocalciuria, Hypomagnesiuria, Osteomalacia, Nephrolithiasis, Parathormone-independent increased... ORPHA:405
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of fin... ORPHA:920
Holoprosencephaly 9
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Agenesis of incisor... OMIM:610829
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu... OMIM:614188
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Hypoplasia of the maxilla, Sinusitis ORPHA:238468
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Pelvic girdle muscle atrophy, Mandibular prognathia ORPHA:3044
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of ... ORPHA:306542
Barber-Say Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Talipes ... OMIM:209885
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Ventricular septal defect OMIM:123700
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand OMIM:122880
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Taurodontia, Hypoplasia of the maxilla 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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