Gene Summary

Name:
follistatin-like 1
Synonyms:
TSC-36

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating HDL cholesterol level Fstl1tm1b(EUCOMM)Hmgu HOM Early adult 4.06×10-05
decreased neutrophil cell number Fstl1tm1b(EUCOMM)Hmgu HOM Early adult 3.16×10-05
increased lymphocyte cell number Fstl1tm1b(EUCOMM)Hmgu HOM Early adult 2.05×10-05
increased circulating cholesterol level Fstl1tm1b(EUCOMM)Hmgu HOM Early adult 1.67×10-05
impaired glucose tolerance Fstl1tm1b(EUCOMM)Hmgu HOM Early adult 2.63×10-05
decreased fasting circulating glucose level Fstl1tm1b(EUCOMM)Hmgu HOM   Early adult 4.44×10-05

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Fstl1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fstl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Cervical Rib
Cervical ribs OMIM:117900
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... ORPHA:3347
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal calcification, Calcification of... ORPHA:3348
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Reduced bone mineral density, Bowi... ORPHA:2501
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h... ORPHA:40
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia OMIM:232700
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Bilateral lung agenesis, Neonatal death OMIM:601612
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Patellar dislocation, Short thumb, Sandal gap, Broad hallux, Lumb... OMIM:618167
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
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
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Gen... OMIM:609223
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Metaphyseal Dysplasia, Spahr Type
Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Osteochondritis dissecans, Metaphyseal ch... OMIM:250400
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter ORPHA:2547
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Sh... ORPHA:1801
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... ORPHA:2635
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Cuboid-shaped vertebral bodies, Tali... ORPHA:1326
Nail-Patella Syndrome
Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist... ORPHA:2614
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thorax morphology, Po... ORPHA:294975
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... ORPHA:2631
Perching Syndrome
Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, Scoliosis OMIM:617055
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia... OMIM:265000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Diastrophic Dysplasia
Laryngotracheal stenosis, Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vert... OMIM:222600
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,... OMIM:161200
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ... ORPHA:429
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Respiratory distress, Central apnea, Hyperoxemia, Abnormal lung morpholog... ORPHA:70589
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Broad thumb, Patellar dislocation, Finger syndactyly, Tibial torsion, Cervical r... ORPHA:3320
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Stuve-Wiedemann Syndrome 2
Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado... OMIM:619751
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Scholte Syndrome
Small hand, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Kyphoscoliosis, Acromicria,... OMIM:300977
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Narrow chest, Arthrogryposis multiplex congenita, Lumbar hyperlordosis, Hip contracture, Knee fle... OMIM:602484
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Short toe, Patellar hypoplasia, Hyperextensibility of the finger joints, Lumbar hyperlordosis, Pe... ORPHA:3041
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections ORPHA:2321
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr... ORPHA:99642
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Cubitus valgus, Short neck... OMIM:617396
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Cleidorhizomelic Syndrome
Rhizomelia, Abnormal clavicle morphology, Bilateral single transverse palmar creases, Brachydacty... ORPHA:1453
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... OMIM:184250
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Blount Disease, Adolescent
Osteochondritis dissecans, Genu varum, Bowing of the legs OMIM:259200
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Posterior rib cupping, Irregular epiphyses, Thoraci... OMIM:608728
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Abnormal thorax morphology, Respiratory tract infection, Cyanosis, Pulmon... ORPHA:70587
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge... OMIM:617974
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Odontochondrodysplasia
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Respiratory d... ORPHA:166272
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Respiratory distress, Micrognathia, Dyspnea ORPHA:141152
Keutel Syndrome
Calcification of cartilage, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Rec... ORPHA:85202
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaph... ORPHA:1040
Mosaic Trisomy 8
Narrow chest, Limitation of joint mobility, Deep plantar creases, Arthrogryposis multiplex congen... ORPHA:96061
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal form of the vertebral bodies, Abn... ORPHA:3344
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... OMIM:620211
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Meier-Gorlin Syndrome 3
Recurrent pneumonia, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasia, Tra... OMIM:613803
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Death in childhood, Short finger OMIM:302000
Meier-Gorlin Syndrome 4
Genu recurvatum, Slender long bone, Emphysema, Micrognathia, Patellar aplasia, Lateral clavicle hook OMIM:613804
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Fryns-Smeets-Thiry Syndrome
Micrognathia, Patellar aplasia, Joint hypermobility, Arachnodactyly, Scoliosis, Hip dislocation ORPHA:2058
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Abnormal femur morphology, Lower limb undergrowth, Abnormality of ... ORPHA:2310
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Tracheal stenosis, Subglottic stenosis, Pul... OMIM:608710
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Flexion contracture, Micrognathia, Scoliosis, Patellar hypoplasia OMIM:251240
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Crisponi/Cold-Induced Sweating Syndrome 2
Clinodactyly, Lumbar hyperlordosis, Limited elbow extension, 2-3 toe syndactyly, Cubitus valgus, ... OMIM:610313
Vacterl/Vater Association
Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Occipital ... ORPHA:887
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca... ORPHA:156728
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Familial Anetoderma
Abnormal tibia morphology, Lumbar hyperlordosis, Generalized joint hypermobility ORPHA:228277
Hurler-Scheie Syndrome
Umbilical hernia, Heparan sulfate excretion in urine, Tracheal stenosis, Splenomegaly, Dermatan s... OMIM:607015
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Recurrent pneumonia, Narrow chest, Thoracic hypoplasia, Short femoral ... OMIM:602271
Thanatophoric Dysplasia, Type I
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypopla... OMIM:187600
Fraser Syndrome 3
Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Ureteral agenesis, T... OMIM:617667
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont... OMIM:600175
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, A... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Thoracic hypoplasia, Short femoral neck, Knee dislocation, Short thorax, Small... OMIM:618363
Genitopatellar Syndrome
Hypoplastic ilia, Apnea, Micrognathia, Patellar aplasia, Hip contracture, Knee flexion contractur... ORPHA:85201
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared... ORPHA:93352
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumot... ORPHA:70588
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... OMIM:251450
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Short neck, Pes planus, Bro... OMIM:615222
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyporeflexia of lower limbs, Pes cavus, Hip contracture, Knee flexion contracture, Distal lower l... OMIM:615290
Rigid Spine Syndrome
Pneumonia, Elbow flexion contracture, Hamstring contractures, Hip contracture, Hyperlordosis, Sco... ORPHA:97244
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Noonan Syndrome 9
Hydroureter OMIM:616559
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge... ORPHA:896
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Melnick-Needles Syndrome
Anisospondyly, Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Short ... ORPHA:2484
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Narrow ... ORPHA:85166
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... OMIM:612526
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal stenosis, Hydrocephalus, Aplasia/H... ORPHA:3301
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Respiratory distress, Long palm, Arachnodactyly, Missing r... ORPHA:2759
Recombinant 8 Syndrome
Deep plantar creases, Abnormal sternum morphology, Camptodactyly of finger, Micrognathia, Patella... ORPHA:96167
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... ORPHA:970
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Hypochondroplasia
Flared metaphysis, Lumbar hyperlordosis, Trident hand, Limited elbow extension, Aplasia/hypoplasi... OMIM:146000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Diaphanospondylodysostosis
Enlarged thorax, Respiratory distress, Absent or minimally ossified vertebral bodies, Missing rib... ORPHA:66637
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter OMIM:222300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes eq... ORPHA:536467
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Shoulder girdle muscle weakness, Abnormality of the Achilles tendon, Hyperl... ORPHA:363454
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Nephronophthisis 15
Nephronophthisis OMIM:614845
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Poor wound healing, Micrognathia, Talipes equinovarus, Pes planus,... ORPHA:536516
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Pectus carinatum, Joint stiffness, Bilateral single transverse palmar creases, Arachnodactyly, Ap... ORPHA:1548
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Pectus carinatum, Vertebral wedging, Bowing of the arm, Biconcave vertebr... OMIM:301014
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections, Death in infancy, Abnormal tracheobronchial ... ORPHA:1790
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Myelomeningocele, Hydronephrosis, Tracheoes... ORPHA:2437
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral cl... OMIM:617895
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... OMIM:250420
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Abnormal ulnar metaphysis ... ORPHA:85198
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates ORPHA:64741
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... OMIM:618395
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Hypophosphatasia
Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib morphology, Craniosynostosis, Abn... ORPHA:436
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc... ORPHA:90650
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Equinovarus deformity, Respiratory distress, Elbow flexion contracture... ORPHA:1143
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly, Tracheal stenosis, Subglottic stenosis OMIM:617809
Cutis Laxa, Autosomal Recessive, Type Iie
Hip dislocation, Lumbar hyperlordosis, Joint hypermobility, Deep palmar crease, Brachydactyly, Cr... OMIM:619451
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal cupping of metacarpals, Abnormal pelvic girdle bone morphology, Abnormality of the ve... OMIM:250460
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Oxygen desaturation on... OMIM:610978
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Prenatal Bowing
Bowing of the long bones OMIM:264050
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Clinodactyly, Respiratory distress, Micrognathia, Scoliosis OMIM:300934
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... OMIM:259440
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S... ORPHA:168555
Penoscrotal Transposition
Pectus carinatum, Micrognathia, Patellar aplasia, Bilateral single transverse palmar creases, Cli... ORPHA:2842
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ... ORPHA:582
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W... OMIM:619131
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Bruising susceptibility, ... OMIM:616229
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Broa... OMIM:277950
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Patellar hypoplasia, Apnea, Micrognathia, Cyanosis, Tachypn... ORPHA:2257
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis OMIM:618453
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Masa Syndrome
Pes cavus, Talipes equinovarus, Adducted thumb, Hyperlordosis, Kyphosis OMIM:303350
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy, Diverticulosis of trachea OMIM:275300
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J... ORPHA:577
17Q23.1Q23.2 Microdeletion Syndrome
Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Patellar hypoplasia, Limita... ORPHA:261279
Achondroplasia
Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Limited elbow extensio... ORPHA:15
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal thorax morphology, Pleural effusion, D... ORPHA:50251
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Atelectasis, Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly OMIM:615993
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Severe limb shortening, Abnormal femoral metap... OMIM:200600
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equino... OMIM:253010
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Femoral ... OMIM:600785
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Tracheal stenosis, Pulmonary artery stenosis, Tachypnea, Central apnea, R... ORPHA:79345
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal enchondral ossification, Short thorax, Micrognathia, Talipes e... ORPHA:93298
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Parenchymal consolidation, Abnorm... ORPHA:2902
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb under... ORPHA:1423
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Recurre... OMIM:215150
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... OMIM:187760
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Pectus carinatum, Hypermobility of interphalangeal joints, Hyperextensi... OMIM:613849
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Exces... ORPHA:1860
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the wrist, Abnormal thumb m... ORPHA:2511
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... OMIM:249710
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... OMIM:612847
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Anaplastic Thyroid Carcinoma
Respiratory distress, Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplasm of the lung ORPHA:142
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Lumbar hyperlordosis, Os... OMIM:165800
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Elbow flexion contracture, Hamstring contract... ORPHA:267
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ... ORPHA:2616
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture... ORPHA:2771
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Pes planus, Finger joint hypermobility, Flat acetabu... OMIM:618870
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... OMIM:255800
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lavage flu... OMIM:619611
Rapadilino Syndrome
Aplasia/Hypoplasia of the radius, Joint dislocation, Absent thumb, Aplasia/Hypoplasia of the pate... OMIM:266280
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Codas Syndrome
Hydroureter ORPHA:1458
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,... OMIM:601559
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Erythema, Joint dislocation, Patellar hypoplasia... ORPHA:221016
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Bowing ... OMIM:617952
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog... ORPHA:1842
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal lung lobation, T... ORPHA:1120
Neuralgic Amyotrophy
Sprengel anomaly, Syndactyly, Scapular winging, Acrocyanosis, Upper limb amyotrophy ORPHA:2901
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Talipes equinovarus, Joint contracture of the hand, Scoliosis, Hyperlordosis OMIM:611067
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve... OMIM:620639
9Q33.3Q34.11 Microdeletion Syndrome
Patellar hypoplasia, Patellar aplasia, Single transverse palmar crease, Telangiectasia, Talipes e... ORPHA:495818
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Generalized abnormality of skin, Bowing of the l... ORPHA:61
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Pectus carinatum, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxia... OMIM:183900
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker... OMIM:618393
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Emphysema, Tracheobronchomalacia, Patellar aplasia, Hip dysplasia,... OMIM:616835
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Short neck, Thor... OMIM:114300
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Wormian bones, P... OMIM:619795
Baller-Gerold Syndrome
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Erythema, Carpal synostosis, Microgna... OMIM:218600
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Pyle Disease
Platyspondyly, Absent paranasal sinuses, Genu valgum, Limited elbow extension, Reduced bone miner... OMIM:265900
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... ORPHA:1797
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Sandal gap, Respiratory distr... OMIM:617102
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... OMIM:102510
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity ORPHA:330012
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Contractural Arachnodactyly, Congenital
Micrognathia, Hip contracture, Arachnodactyly, Talipes equinovarus, Short neck, Bowing of the lon... OMIM:121050
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Clubbing, Dyspnea, A... OMIM:612387
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Sti... OMIM:241500
Meier-Gorlin Syndrome 5
Clinodactyly, Elbow dislocation, Slender long bone, Hypoplasia of the capital femoral epiphysis, ... OMIM:613805
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Juberg-Hayward Syndrome