Gene: Ltbp1 MGI:109151

Log in to follow

Gene Summary

Name:
latent transforming growth factor beta binding protein 1
Synonyms:
LTBP-1,  9430031G15Rik,  b2b1000Clo,  Ltbp1L

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
abnormal ulna morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 7.49×10-10
abnormal incisor morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 9.97×10-07
decreased circulating total protein level Ltbp1tm1a(EUCOMM)Wtsi HET   Early adult 5.72×10-05
abnormal snout morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.64×10-11
vertebral fusion Ltbp1tm1a(EUCOMM)Wtsi HOM   Early adult 7.23×10-05
abnormal tooth morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 5.59×10-09
decreased body weight Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 6.77×10-13
abnormal cranium morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 7.27×10-11
increased heart weight Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 2.59×10-05
increased circulating bilirubin level Ltbp1tm1a(EUCOMM)Wtsi HET Early adult 7.03×10-05
abnormal radius morphology Ltbp1tm1a(EUCOMM)Wtsi HOM Early adult 1.25×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (3 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 66.67% (2 of 3)
Heart N/A heterozygote 66.67% (2 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 33.33% (1 of 3)
Lower urinary tract N/A heterozygote 66.67% (2 of 3)
Lung N/A heterozygote 33.33% (1 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 66.67% (2 of 3)
Oviduct N/A heterozygote 66.67% (2 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 33.33% (1 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 100% (3 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 33.33% (1 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 33.33% (1 of 3)
Trachea N/A heterozygote 66.67% (2 of 3)
Uterus N/A heterozygote 33.33% (1 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

5 Images

Legacy Phenotype Associated Images

View all 135 images

View all 7 images

Human diseases caused by Ltbp1 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 Ltbp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration OMIM:219550
Thymic Aplasia With Fetal Death
Renal agenesis, Truncus arteriosus, Ureteral agenesis OMIM:274210
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Narrow iliac wing, Joint contr... OMIM:601668
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic ste... OMIM:615382
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst, Truncus arteriosus, Ventricular septal defect OMIM:228940
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Micrognathia, Anteverted nares, Promine... ORPHA:446
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect OMIM:601355
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Uni... OMIM:618845
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... OMIM:113000
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carp... ORPHA:90650
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition, Bilateral single tra... ORPHA:1094
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia OMIM:600666
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Abnormality... ORPHA:2501
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of dental morphology, Abnormal form of the vertebral bodies, Abnormality of the denti... ORPHA:1837
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Thin upper lip vermilion, Cleft palate, Micrognathia, Anteverted nares ORPHA:2015
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Cerebral berry aneurysm, Polycystic kidney dysplasia, Mitral valve prolapse OMIM:173900
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cuti... OMIM:615297
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Renal ... ORPHA:2516
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Broad palm, Genu recurvatum, Kyphosis, Maxillary lateral in... OMIM:300602
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplasti... ORPHA:1727
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, Anteverted nares, Abnormality of the dentition, High palate, Microgna... ORPHA:217340
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... OMIM:263540
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Carious teeth, Small epiphyses, High palate, Short fe... OMIM:618363
Glycogen Storage Disease Iii
Thin vermilion border, Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Thin upper ... OMIM:232400
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Hemivertebrae, Thin upper lip vermilion, Abnormal cardiac s... OMIM:615583
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Pulmonic ste... OMIM:615415
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Retrognathia, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Elbow pain, Limited shoulder movement, Duplication of... ORPHA:93320
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Broad palm, Genu recurvatum, Kyphosis, Maxillary lateral in... OMIM:300431
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, E... ORPHA:401935
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the upper urinary tract ORPHA:1705
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Craniofacial-Deafness-Hand Syndrome
Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge OMIM:155050
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Maxillonasal Dysplasia
Open bite, Short nose, Mandibular prognathia, Short columella, Abnormality of the nares, Tooth ag... ORPHA:1248
Pyle Disease
Scoliosis, Limited elbow extension, Delayed eruption of teeth, Genu valgum, Carious teeth, Platys... OMIM:265900
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Ulnar deviation of the hand, Acetab... ORPHA:93307
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central... ORPHA:99642
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis OMIM:617577
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Adams-Oliver Syndrome 6
Renal hypoplasia, Truncus arteriosus, Ventricular septal defect OMIM:616589
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Scoliosis, Cervical segmentation defect, Short neck, Elb... OMIM:108721
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Horseshoe kidney, Renal malr... OMIM:601186
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Long philtrum, Radioulnar synostosis, Elbow dislo... OMIM:171480
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Hypomandibular Faciocranial Dysostosis
Pursed lips, Choanal stenosis, Aglossia, Micrognathia, Malar flattening, Hypoplasia of the maxilla OMIM:241310
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Carious teeth, Delayed eruptio... OMIM:265800
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, Mitral v... OMIM:305620
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Pear-shaped vertebrae, Platyspondyly, Flared iliac wing, ... OMIM:602111
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Dextrocardia, Cleft palate, Micrognathia, Vertebral segmentation defect OMIM:221950
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Gingival over... ORPHA:1832
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Aarskog-Scott Syndrome
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Joint hyperfle... ORPHA:915
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Kbg Syndrome
Scoliosis, Long philtrum, Oligodontia, Finger clinodactyly, Thoracic kyphosis, Persistent open an... ORPHA:2332
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Elbow dislocation, Abno... ORPHA:2916
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul... ORPHA:1972
Multiple Osteochondromas
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the meta... ORPHA:321
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Overweight, Short 5th metacarpal, 3-4 finger cutane... ORPHA:370010
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Hypoplasia of teeth, Dent... OMIM:257850
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Gorlin Syndrome
Scoliosis, Carious teeth, Palmar pits, Mandibular prognathia, Hemivertebrae, Vertebral fusion, Wi... ORPHA:377
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Sin... OMIM:227270
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Vascular dilatation, Nephropathy, Dilatation of the cerebral artery, Renal cyst, Renal... OMIM:611773
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Recurrent urinary tract infections, Dextrocardia, Polycystic kidney dyspl... OMIM:613095
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Cleft upper lip, Cleft palate, Abnormal verte... OMIM:244600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Prominent nasal bridge, Hypoplasia of the maxilla OMIM:608432
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect ORPHA:3469
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Long philtrum, Prominence of the premaxilla, Short nose, Open mouth, Everted ... OMIM:137550
Cohen Syndrome
Genu valgum, Cubitus valgus, Short philtrum, Short metatarsal, Joint hypermobility, Open mouth, N... OMIM:216550
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of... ORPHA:2632
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone, De... OMIM:616202
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Phocomelia, Micrognathia, Genu varum, Cleft palate, Tetral... ORPHA:3320
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesicoureteral reflu... ORPHA:1166
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Micrognathia, Ulnar bowing, L... OMIM:154780
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, High palate, Everted lower lip vermilion, Deep philtrum,... ORPHA:261120
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Trisomy 4P
Scoliosis, Radial club hand, Carious teeth, Preaxial hand polydactyly, Camptodactyly of finger, A... ORPHA:1738
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Broad nasal tip, Hypoplasia of the maxilla ORPHA:2776
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Deep ph... ORPHA:2878
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus, Facial palsy, Ventricular septal defect OMIM:147770
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Fibromuscular Dysplasia, Arterial
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Feingold Syndrome Type 1
Nephritis, Tricuspid atresia, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morpholog... ORPHA:391641
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Emanuel Syndrome
Thickened nuchal skin fold, Delayed eruption of primary teeth, Atrial septal defect, Truncus arte... OMIM:609029
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Finger clinodactyly, Periapical tooth abscess, Agenesis of incis... ORPHA:3352
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tu... OMIM:610205
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Fused cervi... OMIM:309620
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Intellectual Disability, Birk-Barel Type
Short philtrum, Congenital finger flexion contractures, Open mouth, Limited elbow flexion/extensi... ORPHA:166108
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Kbg Syndrome
Long philtrum, Oligodontia, Thoracic kyphosis, Delayed skeletal maturation, Radial deviation of f... OMIM:148050
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia, Anteverted nares OMIM:166750
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Vascular dilatation, Nephropathy, Renal cyst, Chronic kidney ... OMIM:617056
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Elbow dislocation, Flared iliac wing, Hy... ORPHA:90652
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hydronephrosis, Abnormal common caroti... ORPHA:449400
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Craniofacial-Deafness-Hand Syndrome
Short nose, Narrow mouth, Hypoplasia of the maxilla, Depressed nasal ridge, Aplasia/Hypoplasia in... ORPHA:1529
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Ventricular septal defect, Cervical C2/C3 vertebr... ORPHA:2345
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Abnormality of pelvic girdle ... OMIM:272460
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Wide nasal bridge OMIM:262020
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Renal cortical adenoma, Nephroblastoma, Polycystic kidney dysplas... OMIM:145001
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Everted lower lip vermilion, High palate, Micrognathia, Depressed... ORPHA:1695
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Acrorenal Syndrome
Abnormality of tibia morphology, Micrognathia, Split hand, Aplasia/Hypoplasia of the radius, Clef... ORPHA:971
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... OMIM:178110
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Widely spaced teeth, Short 1st metacarp... OMIM:135100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Common atrium OMIM:619143
Asymmetric Short Stature Syndrome
Dental crowding, Lumbar scoliosis, Hemihypotrophy of lower limb, Micrognathia, Fused cervical ver... OMIM:108450
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Thin vermilion border, Short philtrum, Wide anterior fontanel,... OMIM:606003
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Distal Tetrasomy 15Q
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Hypo... ORPHA:314588
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Acrodysostosis
Open bite, Accelerated skeletal maturation, Epiphyseal stippling, Short metatarsal, Open mouth, M... ORPHA:950
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Dea... ORPHA:2008
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:312150
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Hyperplasia of the maxilla, Narrow palate, Thoracic kyphoscoliosis, Dental crowding, 2... ORPHA:313892
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia ORPHA:306550
Gillessen-Kaesbach-Nishimura Syndrome
Convex nasal ridge, Wide anterior fontanel, Underdeveloped nasal alae, Periportal fibrosis, Smoot... OMIM:263210
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Portal inflammation, Elevated circulating alanine aminotransferase conc... OMIM:613759
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Open mouth, Drooling, Broad nasal tip, Retrognathia, Malar flattening OMIM:613670
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short philtrum, Thin vermilion border, Premature loss of teeth, Hypoplasia of... OMIM:156510
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Hemivertebrae, Vertebral fusion, Dextrocardia, Abnormality of the odontoi... OMIM:613686
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Short nose, Anteverted nares, Prolonged neonatal jaundice, Jaundice, Malar flatteni... OMIM:613038
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Brac... ORPHA:1436
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Narrow mouth, Incisor macrodontia, Sa... OMIM:615502
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Osteoporosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia ... OMIM:234250
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Camptodactyly, Agenesis of maxillary ... OMIM:311450
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency, Hypoplasia of the maxilla ORPHA:99772
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:300676
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Perlman Syndrome
Abnormality of upper lip, Short nose, Open mouth, High, narrow palate, Smooth philtrum, Wide nasa... ORPHA:2849
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect,... OMIM:617877
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosi... ORPHA:369
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Ventricular septal defect OMIM:616920
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Thick vermilion border, Hypodontia, High palate, Micrognathia OMIM:617061
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, H... OMIM:231100
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Generalized bone demineralization, Short phalanx of finger, E... OMIM:143095
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Dental crowding, Triangu... OMIM:268310
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Short neck, Everted lower lip vermilion, Flexion contracture, Thin upper lip vermi... OMIM:616549
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Cardiospondylocarpofacial Syndrome
Scoliosis, Long philtrum, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Abnormality of ... OMIM:157800
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Microdontia, Widely spaced teeth, Hy... OMIM:601216
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly OMIM:271500
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Hypospadias, Ureteral du... OMIM:617516
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Osteolysis Syndrome, Recessive
Broad nasal tip, Hypoplasia of the maxilla OMIM:259610
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Metap... OMIM:618395
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Short nose, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ... ORPHA:2429
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Holt-Oram Syndrome
Secundum atrial septal defect, Partial duplication of thumb phalanx, Absent radius, Short clavicl... OMIM:142900
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... OMIM:253290
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbo... OMIM:210720
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Cholestasis, Hepatic fibrosis, Hepatomegaly, Bifid uvula, High palate, ... OMIM:266920
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Perimem... ORPHA:363444
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Mental Retardation, X-Linked 91
High palate, Short nose, Macrodontia OMIM:300577
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft pal... OMIM:214300
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Kniest Dysplasia
Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral wedging, Flexion contract... ORPHA:485
Epidermal Nevus Syndrome
Aortic aneurysm, Polycystic kidney dysplasia ORPHA:35125
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Ellis Van Creveld Syndrome
Thin vermilion border, Short distal phalanx of finger, Dextrocardia, Genu valgum, Situs inversus ... ORPHA:289
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Cleft ... ORPHA:66637
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Smooth philtrum, Thin upper lip vermilion, Anteverted nares ORPHA:46
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Ventricular septal defect... OMIM:192430
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Abnormality of the metacarpal bones, Abnormality of the ulna, High palate,... ORPHA:2233
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis, Ventricular septal defect ORPHA:251076
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Spondylospinal Thoracic Dysostosis
Micrognathia, Pulmonary hypoplasia, Hypoplasia of the maxilla OMIM:601809
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Prominent... OMIM:302350
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Sheldon-Hall Syndrome
Overlapping fingers, Scoliosis, Tarsal synostosis, Short neck, Micrognathia, Aplasia/Hypoplasia o... ORPHA:1147
Ring Chromosome 21 Syndrome
Scoliosis, Abnormal heart morphology, Narrow palm, Fused thoracic vertebrae, Thoracic hemivertebr... ORPHA:1445
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Smooth philtrum, Micrognathia, Anteverted nares, Depress... OMIM:614744
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Bulbous nose, Smooth philtrum, Thin upper lip vermilion, Widely-spaced incisors, Hypoplasia of th... OMIM:618737
Perlman Syndrome
Nephroblastomatosis, Interrupted aortic arch, Nephrogenic rest, Nephroblastoma, Renal hamartoma OMIM:267000
Emanuel Syndrome
Delayed eruption of teeth, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, P... ORPHA:96170
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, High palate, Micrognathia, Short nose ORPHA:2598
X-Linked Intellectual Disability, Porteous Type
Short philtrum, Mandibular prognathia, Bulbous nose, Hypoplasia of the maxilla ORPHA:93945
Thomas Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Broad first metatarsal, Pericardial effusion, Ovoid ver... OMIM:239850
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Prominent n... ORPHA:1200
Koolen-De Vries Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow palate, Joint hyperflexibility, Everted lowe... ORPHA:96169
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Kyphosis, Achilles tendon contracture, Shoulder girdle mu... OMIM:606612
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Short nose, Downturned corners... ORPHA:2409
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Oligodontia, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Atrial septal defect, Ectodermal dysplasia, Natal tooth, Common atrium OMIM:225500
20P12.3 Microdeletion Syndrome
Long philtrum, Narrow mouth, Hypoplasia of the maxilla, Wide nasal bridge, Malar flattening, Depr... ORPHA:261295
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia OMIM:608776
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Square pelvis bone, Joint hyperf... ORPHA:166272
Peho-Like Syndrome
Retrognathia, Short nose, Open mouth OMIM:617507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial effusion, Bilater... OMIM:235510
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Narrow mouth, Short nose, Downturned corners of mouth, Depr... ORPHA:1906
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Short nose, Microretrognathia, Abnormal palate morphology, Recurrent respiratory i... ORPHA:1389
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Short philtrum, Osteolysis, Genu r... ORPHA:137834
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Short columella, Wide nasal bridge, Median cleft palate, Bifid nasal... OMIM:136760
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short nose, Wide nasal bridge, Cleft palate, Micrognathia OMIM:614078
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplastic iliac wing, Abnormality of... ORPHA:1858
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... ORPHA:1826
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobu... OMIM:252100
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Dental crowding, High palate, High, narrow palate, Uln... OMIM:600920
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Short nose, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Robinow Syndrome
Scoliosis, Dental crowding, Short distal phalanx of finger, Oral cleft, Hemivertebrae, Triangular... ORPHA:97360
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Mitral valve prolapse, Recurrent urinary... ORPHA:730
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Enlarged kidney, Patent ductus arteriosus, Renal dysplasia, Ureteral atresi... OMIM:208540
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Micrognathia, Syndactyly, Retrognathia, Increased over... OMIM:613684
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Thin upper lip vermilio... OMIM:616331
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy