Gene Summary

Name:
low density lipoprotein receptor-related protein 1
Synonyms:
CD91,  A2mr,  b2b1554Clo

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
pallor Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
decreased circulating triglyceride level Lrp1tm1.1(KOMP)Wtsi HET Early adult 2.38×10-05
abnormal pericardium morphology Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
abnormal limb bud morphology Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
increased heart weight Lrp1tm1.1(KOMP)Wtsi HET Early adult 7.74×10-05
preweaning lethality, complete penetrance Lrp1tm1.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal embryo size Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
increased circulating alkaline phosphatase level Lrp1tm1.1(KOMP)Wtsi HET   Early adult 1.82×10-05

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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)
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)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 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%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 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)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

39 Images

Eye Morphology

Images Slit Lamp

2 Images

Sleep Wake

Wake state (bmp file)

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Combined SHIRPA and Dysmorphology

Images

8 Images

Gross Morphology Embryo E12.5

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Human diseases caused by Lrp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lrp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Keratosis Pilaris Atrophicans
Erythema OMIM:604093

The table below shows human diseases predicted to be associated to Lrp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Omphalocele
Omphalocele ORPHA:660
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology, Congenital diaphr... DECIPHER:39
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Omphalocele, X-Linked
Omphalocele OMIM:310980
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Patent ductus arteriosus, Congenital diaphragmatic hernia ORPHA:99811
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Gastroschisis
Gastroschisis ORPHA:2368
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Congenital diaphragmatic hernia OMIM:614100
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Isolated Trigonocephaly
Omphalocele ORPHA:3366
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hernia OMIM:615524
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Ethanolaminosis
Cardiomegaly OMIM:227150
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Congenital unilateral pulmonary hypoplasia
Anomalous pulmonary venous return, Congenital diaphragmatic hernia ORPHA:2258
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Dextrocardia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:614294
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Thymic Aplasia With Fetal Death
Truncus arteriosus OMIM:274210
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilical hernia ORPHA:254534
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Ectopia cordis, Congenital diaphragmatic hernia, Ventral h... OMIM:313850
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Donnai-Barrow Syndrome
Ventricular septal defect, Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Ap... ORPHA:2847
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy OMIM:250951
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia ORPHA:261102
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... OMIM:609029
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragma... ORPHA:1166
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Polydactyly-Myopia Syndrome
Inguinal hernia, Femoral hernia ORPHA:2917
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Overridin... OMIM:601927
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect OMIM:601357
Optic Atrophy 9
Pallor OMIM:616289
Trigonocephaly 1
Omphalocele OMIM:190440
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Hypoplastic left heart, Secundum atrial septal defect, Ventric... OMIM:618901
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect OMIM:228940
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology, P... ORPHA:401935
Acalvaria
Omphalocele ORPHA:945
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Arterial Tortuosity Syndrome
Hiatus hernia, Ventricular hypertrophy, Aortic tortuosity, Generalized arterial tortuosity, Flexi... OMIM:208050
Teebi Hypertelorism Syndrome
Atrial septal defect, Omphalocele, Ventricular septal defect OMIM:145420
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Camptodactyly, Omphalocele, Bicuspid aortic valve OMIM:618529
Peripheral Cone Dystrophy
Pallor OMIM:609021
Rhiny
Inguinal hernia OMIM:180360
Cone-Rod Dystrophy 11
Pallor OMIM:610381
2q33.1 deletion syndrome
Inguinal hernia DECIPHER:51
Hydrocephalus With Associated Malformations
Omphalocele OMIM:236640
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:139466
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hypertrophi... OMIM:615415
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Omphalocele, Abnormal heart morphology, Congenital diaphragmatic hernia OMIM:263210
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Omphalocele, Ventricular septal defect OMIM:243150
Retinitis Pigmentosa 70
Pallor OMIM:615922
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Omphalocele, Co... ORPHA:1335
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic he... ORPHA:1488
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Vascular tortuosity, Ascendin... OMIM:219100
Donnai-Barrow Syndrome
Ventricular septal defect, Diaphragmatic eventration, Omphalocele, Umbilical hernia, Congenital d... OMIM:222448
Breath-Holding Spells
Pallor OMIM:607578
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Pu... ORPHA:96170
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Small hypothenar eminence, Camptodactyly, Inguinal hernia, Joint contractu... OMIM:211960
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Patent duc... OMIM:608149
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Omphalocele, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Distal Trisomy 15Q
Camptodactyly of finger, Congenital muscular torticollis, Omphalocele ORPHA:1707
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Hypoplastic left heart, Coarctation of aorta, Congenital diap... OMIM:301022
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Umbilical hernia, Pulmonic stenosis, Inguinal hernia, Hernia, Ao... ORPHA:90348
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Retinitis Pigmentosa 73
Pallor OMIM:616544
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Fetal Encasement Syndrome
Tetralogy of Fallot, Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Trisomy 1Q
Camptodactyly of finger, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Congen... ORPHA:261344
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Congenital diaphragmatic hernia OMIM:300978
Constricting Bands, Congenital
Gastroschisis, Ectopia cordis, Omphalocele, Bladder exstrophy OMIM:217100
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Omphalocele, Double outlet... ORPHA:371428
Congenital Respiratory-Biliary Fistula
Abnormality of the liver ORPHA:2040
Optic Atrophy 1
Pallor OMIM:165500
Retinitis Pigmentosa 27
Pallor OMIM:613750
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Anomalous pulmonary venous return, Umbilical hernia, Inguinal hernia, Co... ORPHA:2311
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Umbilical hernia, Perimembranous ventricular septal defect, Inguinal hernia,... OMIM:618651
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Caudal Duplication
Omphalocele ORPHA:1756
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Inguinal hernia, Atrial septal defect, Patent ductus arteriosus OMIM:601450
Lowry-Maclean Syndrome
Atrioventricular canal defect, Inguinal hernia, Coarctation of aorta, Congenital diaphragmatic he... ORPHA:2409
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus, Umbilical hernia, Inguinal hernia, Congenital dia... OMIM:618454
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Inguinal ... OMIM:158170
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
X-Linked Ehlers-Danlos Syndrome
Inguinal hernia, Hernia, Umbilical hernia ORPHA:75497
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Omphalo... OMIM:201000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Triploidy
Abnormal cardiac septum morphology, Macroglossia, Omphalocele ORPHA:3376
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Congenital diaphragmatic hernia, ... OMIM:617602
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Coarctation of aorta, Omphalocele, Congenital... ORPHA:1692
Seckel Syndrome 9
Ventricular septal defect, Atrial septal defect, Pulmonary artery hypoplasia, Congenital diaphrag... OMIM:616777
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mit... ORPHA:2008
Lambert Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:1296
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Omphalocele, Umbilical hernia ORPHA:2241
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Pallor, Ventricular septal defect ORPHA:49827
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal dental enamel morphology, Diastasis recti, Ventricular septal d... ORPHA:2092
Thakker-Donnai Syndrome
Ventricular septal defect, Tetralogy of Fallot, Transposition of the great arteries, Congenital d... ORPHA:1780
Diamond-Blackfan Anemia 10
Ventricular septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:613309
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Omphalocele, Tetralogy of Fallot, Co... ORPHA:2059
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... ORPHA:254528
Vacterl/Vater Association
Abnormal cardiac septum morphology, Omphalocele, Congenital diaphragmatic hernia ORPHA:887
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal aortic valve morphology, Dextrocardia, ... ORPHA:261197
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect OMIM:617516
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Umbilical he... OMIM:618846
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Omphalocele, Pulmonary artery hypoplasia, Hyp... ORPHA:991
15Q24 Microdeletion Syndrome
Hernia, Abnormal heart morphology, Congenital diaphragmatic hernia ORPHA:94065
Kennerknecht Syndrome
Omphalocele OMIM:600908
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Congenital diaphragmatic hernia OMIM:611812
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:2075
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom... OMIM:618838
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
C Syndrome
Patent ductus arteriosus, Omphalocele, Ventricular septal defect OMIM:211750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Rheumatic Fever
Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve morphology, Ab... ORPHA:3099
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Mitral valve prolapse, Aortic root aneurysm, Bicuspid aortic valve, Inguina... OMIM:245600
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Microspherophakia With Hernia
Inguinal hernia OMIM:157150
Opitz Gbbb Syndrome
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:2745
White-Sutton Syndrome
Facial hypotonia, Abnormal heart morphology, Inguinal hernia, Congenital diaphragmatic hernia, Ve... ORPHA:468678
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Ing... ORPHA:261330
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Miller-Dieker Lissencephaly Syndrome
Abnormal heart morphology, Camptodactyly, Omphalocele, Inguinal hernia, Joint contracture of the ... OMIM:247200
Fibrochondrogenesis 1
Patent foramen ovale, Camptodactyly, Omphalocele, Joint contracture of the hand OMIM:228520
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia ORPHA:412035
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia OMIM:235760
Myelofibrosis
Pallor, Purpura OMIM:254450
Trisomy 18
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Omphalocele, Hernia, Co... ORPHA:3380
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Congenital finger flexion contractures, Patent ductus arteriosus, Achilles ... ORPHA:363528
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Inguinal hernia, Patent ductus arteriosus, Abnormal tricuspid... ORPHA:2412
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Abnormali... OMIM:257920
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Diastasis recti, Omphalocele OMIM:618419
2Q37 Microdeletion Syndrome
Abnormal aortic morphology, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly, Pallor OMIM:615631
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis ORPHA:163596
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Arteria lusoria, Inguinal hernia, Mitral stenosis, Tricuspid valve prolapse, P... OMIM:212093
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, ... OMIM:609053
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Omph... OMIM:616894
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Overriding aort... OMIM:309801
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Omphalocele, Pulmonary artery sten... OMIM:265380
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Inguinal hernia, Aorti... ORPHA:96121
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Czeizel-Losonci Syndrome
Aplasia of the left hemidiaphragm, Dextrocardia, Posterolateral diaphragmatic hernia ORPHA:2437
Multiple Pterygium Syndrome, Escobar Variant
Arthrogryposis multiplex congenita, Camptodactyly of toe, Diaphragmatic eventration, Umbilical he... OMIM:265000
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Codas Syndrome
Enamel hypoplasia, Atrial septal defect, Ventricular septal defect, Omphalocele, Atrioventricular... OMIM:600373
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Generalized arterial tortuosity, Pulmonary artery aneurysm, Inguinal hernia,... OMIM:614437
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Inguinal hernia, Mitral valve prolapse OMIM:225320
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, T... OMIM:255120
Aymé-Gripp Syndrome
Pericarditis, Camptodactyly, Pericardial effusion, Patent ductus arteriosus, Inguinal hernia, Con... ORPHA:1272
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Increased circulating chylomicron concentration, Hypertriglyc... OMIM:207750
Marshall-Smith Syndrome
Atrial septal defect, Patent ductus arteriosus, Omphalocele, Umbilical hernia OMIM:602535
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Iniencephaly
Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele, Congenital diaphragmatic hernia ORPHA:63259
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Retinitis Pigmentosa 75
Pallor OMIM:617023
Irida Syndrome
Pallor ORPHA:209981
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Umbilical... ORPHA:1519
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:268249
22Q11.2 Deletion Syndrome
Abnormal dental enamel morphology, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, V... ORPHA:567
Myopathic Ehlers-Danlos Syndrome
Congenital finger flexion contractures, Talipes equinovarus, Adducted thumb, Tapered finger, Pallor ORPHA:536516
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Omphalocele, Overriding aorta ORPHA:3186
Limb Body Wall Complex
Thoracoabdominal wall defect, Diastasis recti, Atrial septal defect, Abnormal heart morphology, V... ORPHA:2369
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Macroglossia, Atrial septal defect, Ventricular septal defect, Omphaloce... ORPHA:373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perimembranous ventricular s... ORPHA:508498
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Camptodactyly of finger, Abnormal cardiac septum morphology, Omp... ORPHA:90652
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele ORPHA:2021
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Camptodactyly, Flexion contracture of toe, Paten... OMIM:300373
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, In... ORPHA:2306
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Abnormal heart morphology, Ventricular septal defect, Pate... ORPHA:354
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia OMIM:616546
Oligomeganephronia
Pulmonary venous occlusion, Secundum atrial septal defect, Congenital diaphragmatic hernia ORPHA:2260
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Holoprosencephaly
Ventricular septal defect, Abnormal aortic morphology, Omphalocele, Abnormal pulmonary valve morp... ORPHA:2162
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Congenital muscular torticollis, Truncus arteriosus, Atrial septal defect ORPHA:2538
Retinitis Pigmentosa 51
Pallor OMIM:613464
Femoral-Facial Syndrome
Pulmonic stenosis, Inguinal hernia, Truncus arteriosus, Ventricular septal defect OMIM:134780
Adams-Oliver Syndrome 5
Umbilical hernia, Pulmonic stenosis, Inguinal hernia, Right atrial enlargement, Right ventricular... OMIM:616028
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Cornelia De Lange Syndrome 1
Hiatus hernia, Ventricular septal defect, Inguinal hernia, Congenital diaphragmatic hernia, Abnor... OMIM:122470
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Inguinal hernia, Patent foramen... OMIM:269860
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:614080
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Car... OMIM:300257
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
D-Lactic Aciduria With Gout
Inguinal hernia OMIM:245450
Elliptocytosis 1
Pallor OMIM:611804
American Trypanosomiasis
Pallor, Cardiomyopathy, Myocarditis ORPHA:3386
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Interrupted aortic arch, Congenital diaphragmatic h... OMIM:267000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Omphalocele, Umbilical hernia ORPHA:2166
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Omphalocele OMIM:619124
Exstrophy-Epispadias Complex
Abnormal heart morphology, Omphalocele, Cystocele, Inguinal hernia, Abdominal wall defect, Bladde... ORPHA:322
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect ORPHA:436252
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Omphalocele OMIM:616300
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Kagami-Ogata Syndrome
Inguinal hernia, Omphalocele, Diastasis recti ORPHA:254519
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Abnormal umbilical stump ... ORPHA:335
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Necrotizing Enterocolitis
Gastroschisis, Abnormal heart morphology ORPHA:391673
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Inguinal hernia, Atrial septal defect OMIM:619115
Senior-Loken Syndrome 8
Pallor OMIM:616307
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Agenesis of the diaphragm, Omphalocele, Ventricular septa... OMIM:236680
Cloacal Exstrophy
Cloacal exstrophy, Omphalocele, Bladder exstrophy ORPHA:93929
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Microgastria-Limb Reduction Defects Association
Secundum atrial septal defect, Type I truncus arteriosus OMIM:156810
Esophageal Atresia
Coarctation of aorta, Tetralogy of Fallot, Omphalocele, Ventricular septal defect ORPHA:1199
Cold Agglutinin Disease
Pallor ORPHA:56425
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Flexion contracture, Omphalocele, Inguinal hernia, Inferiorly... OMIM:263650
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Omphalocele, Umbilical hernia, Leiomyosarcoma, Inguinal hernia, Ca... ORPHA:116
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Omphalocele, Cardiomegaly, Cardiomyopathy OMIM:130650
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Fryns Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia of the left hemidiaphragm, Camptodactyly... OMIM:229850
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Atrial septal defect, Ventricular septal defect, Patent ductus... ORPHA:818
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Okamoto Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal heart morphology, Omphaloce... ORPHA:2729
Simpson-Golabi-Behmel Syndrome, Type 1
Diastasis recti, Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical her... OMIM:312870
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Greenberg Dysplasia
Cardiomegaly, Omphalocele OMIM:215140
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, In... OMIM:267010
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vascular dilatation, Abnormal heart morphology, Congenital diaphragmatic hernia OMIM:617641
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Inguinal hernia, Femoral hernia OMIM:223330
Meckel Syndrome, Type 1
Patent ductus arteriosus, Omphalocele, Vascular dilatation, Coarctation of aorta, Abnormal cardia... OMIM:249000
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Ventricular septal defect, Camptodactyly, Omphalocele, Umbilical hernia, Inguinal hernia, Multipl... OMIM:218649
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Melnick-Needles Syndrome
Mitral valve prolapse, Omphalocele, Tricuspid valve prolapse OMIM:309350
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Pulmonary embolism, Co... ORPHA:90308
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
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Wolf-Hirschhorn Syndrome
Atrial septal defect, Abnormal heart valve morphology, Hernia, Congenital diaphragmatic hernia, A... ORPHA:280
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Secondary Short Bowel Syndrome
Gastroschisis, Atherosclerosis ORPHA:95427
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Kabuki Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Congenital diaphragmatic hernia ORPHA:2322
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Macroglossia, Diastasis recti, Atrial septal defect, Ventricular se... ORPHA:96334
Otopalatodigital Syndrome, Type Ii
Omphalocele OMIM:304120
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Tay-Sachs Disease
Pallor OMIM:272800
Coffin-Siris Syndrome 1
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Ingu... OMIM:135900
Hereditary Spherocytosis
Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Rare Circulatory System Disease
Abnormal metatarsal morphology, Abnormality of finger, Pallor, Abnormal hand morphology ORPHA:98028
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Tricuspid valve prolapse, Congenital diaphragmatic hernia, Dil... ORPHA:2556
Pseudoaminopterin Syndrome
Patent foramen ovale, Inguinal hernia, Posterolateral diaphragmatic hernia ORPHA:221120
Holoprosencephaly 7
Omphalocele OMIM:610828
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Abnormal heart morphology, Ventricular septal defect, Complete atrioventricul... ORPHA:508488
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Abnormal liver parenchy... ORPHA:456312
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Poland Syndrome
Atrial septal defect, Aplasia of the pectoralis major muscle, Absence of subcutaneous fat, Dextro... ORPHA:2911
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Umbilical... OMIM:214800
Down Syndrome
Complete atrioventricular canal defect, Macroglossia OMIM:190685
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Focal Dermal Hypoplasia
Enamel hypoplasia, Hiatus hernia, Diastasis recti, Omphalocele, Umbilical hernia, Inguinal hernia... OMIM:305600
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Congenital diaphragmatic hernia ORPHA:1308
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Omphalocele, Umbilical hernia ORPHA:920
Dominant Beta-Thalassemia
Genu valgum, Bowing of the long bones, Dilated cardiomyopathy, Pallor, Skin ulcer ORPHA:231226
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Right ventricular ... ORPHA:1329
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Letterer-Siwe Disease
Pallor OMIM:246400
Acrofacial Dysostosis 1, Nager Type
Gastroschisis, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:154400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Witteveen-Kolk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia OMIM:613406
Beta-Thalassemia Major
Genu valgum, Bowing of the long bones, Dilated cardiomyopathy, Pallor, Skin ulcer ORPHA:231214
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Camptodactyly, Congenital diaphragmatic hernia, ... OMIM:301044
Monosomy 9P
Hernia, Congenital diaphragmatic hernia ORPHA:261112
Pallister-Killian Syndrome
Macroglossia, Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Flexion cont... OMIM:601803
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fumarase Deficiency
Pallor OMIM:606812
Oeis Complex
Cloacal exstrophy, Omphalocele, Bladder exstrophy OMIM:258040
Meier-Gorlin Syndrome 7
Complete atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:617063
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Atrial septal defect, Ventricular septal defect, Intrauterine growth re... OMIM:105650
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology, Absent radius, Short thumb, Absent thumb, Complete dupl... OMIM:600901
Sepsis In Premature Infants
Petechiae, Pallor, Purpura ORPHA:90051
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology, Absent radius, Short thumb, Absent thumb, Complete dupl... OMIM:227650
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Intrauterine growth retardation, Absent radius, Short t... OMIM:227645
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Bladder exstrophy OMIM:600057
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
3-Hydroxy-3-Methylglutaric Aciduria