Gene Summary

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

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 limb bud morphology Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
pallor Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
increased heart weight Lrp1tm1.1(KOMP)Wtsi HET   Early adult 1.18×10-05
abnormal embryo size Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
hemorrhage Lrp1tm1.1(KOMP)Wtsi HET E12.5 0.00
preweaning lethality, complete penetrance Lrp1tm1.1(KOMP)Wtsi HOM   Early adult 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
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  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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E12.5

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

8 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
Atrophoderma Vermiculata
Erythema ORPHA:79100

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
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Omphalocele, X-Linked
Omphalocele OMIM:310980
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 42
Pallor OMIM:612943
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Gastroschisis
Gastroschisis ORPHA:2368
Ethanolaminosis
Cardiomegaly OMIM:227150
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture ORPHA:171719
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar ... OMIM:619903
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Macroglossia, Umbilical hernia OMIM:275100
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium OMIM:615524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia ORPHA:2917
Optic Atrophy 9
Pallor OMIM:616289
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Umbilical hernia, Omphalocele, Abnormal heart morphology ORPHA:254534
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele ORPHA:2143
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy OMIM:250951
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Trigonocephaly 1
Omphalocele OMIM:190440
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Gastroschisis ORPHA:2476
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia ORPHA:36
Rhiny
Inguinal hernia OMIM:180360
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Breath-Holding Spells
Pallor OMIM:607578
Acalvaria
Omphalocele ORPHA:945
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Omphalocele OMIM:601357
2q33.1 deletion syndrome
Inguinal hernia DECIPHER:51
Retinitis Pigmentosa 70
Pallor OMIM:615922
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... ORPHA:2847
Peripheral Cone Dystrophy
Pallor OMIM:609021
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Hydrocephalus With Associated Malformations
Omphalocele OMIM:236640
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Bicuspid aortic valve, Omphalocele, Camptodactyly OMIM:618529
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Omphalocele ORPHA:93267
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Transposition of the great arter... OMIM:313850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot ORPHA:1166
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Retinitis Pigmentosa 73
Pallor OMIM:616544
Right Atrial Isomerism
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... OMIM:208530
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Inguinal hernia ORPHA:1568
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Omphalocele, Abnormal heart morphology OMIM:263210
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Omphalocele OMIM:601927
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:139466
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Camptodactyly, Mitral valv... OMIM:211960
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Distal Trisomy 15Q
Camptodactyly of finger, Omphalocele, Congenital muscular torticollis ORPHA:1707
Emanuel Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Pu... OMIM:609029
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Umbilical he... ORPHA:1488
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... ORPHA:1686
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Pentalogy Of Cantrell
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy... ORPHA:1335
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Arterial Tortuosity Syndrome
Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Aortic valv... OMIM:208050
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Inguinal hernia, Flexion contracture, Pulmonic stenosis, V... OMIM:608149
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619699
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... ORPHA:1120
Retinitis Pigmentosa 27
Pallor OMIM:613750
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Diaphragmatic eventration, Ventricular septal defect, Umbilical ... OMIM:222448
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Omphalocele, Overriding aorta, Cardiomegaly OMIM:617022
Bladder Exstrophy
Omphalocele, Bladder exstrophy, Inguinal hernia, Umbilical hernia ORPHA:93930
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Pulmonic stenosis, Single... OMIM:601186
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart OMIM:301022
Optic Atrophy 1
Pallor OMIM:165500
Constricting Bands, Congenital
Bladder exstrophy, Gastroschisis, Omphalocele, Ectopia cordis OMIM:217100
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Omphalocele OMIM:617895
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Caudal Duplication
Omphalocele ORPHA:1756
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
X-Linked Ehlers-Danlos Syndrome
Hernia, Inguinal hernia, Umbilical hernia ORPHA:75497
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele ORPHA:261344
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyl... ORPHA:2311
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hern... OMIM:600001
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Umbilical hernia, Perimemb... OMIM:618651
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Inguinal hernia ORPHA:2063
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:219100
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Emanuel Syndrome
Multiple joint contractures, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hern... ORPHA:96170
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular... OMIM:614294
Microspherophakia With Hernia
Inguinal hernia OMIM:157150
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:284180
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... OMIM:264480
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Atrioventricular canal defect ORPHA:2409
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Umbilical hernia, Omphalocele ORPHA:2241
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Triploidy
Abnormal cardiac septum morphology, Macroglossia, Omphalocele ORPHA:3376
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Carpenter Syndrome 1
Atrial septal defect, Joint contracture of the hand, Pulmonic stenosis, Tetralogy of Fallot, Camp... OMIM:201000
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Inguinal hernia, Patent fora... OMIM:618454
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture of finger, Flexion contracture, Macroglossia, Inguinal herni... ORPHA:254528
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale, Inguinal hernia OMIM:601450
Hemoglobin D Disease
Pallor ORPHA:90039
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Kennerknecht syndrome
Omphalocele OMIM:600908
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Heterotaxy, Visceral, 1, X-Linked
Double outlet right ventricle, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Atr... OMIM:306955
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphragmatic hernia, Aortic ... ORPHA:3097
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Atrial septal defect, Omphalocele OMIM:145420
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia, Abnormal heart morphology ORPHA:94065
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Focal Dermal Hypoplasia
Diastasis recti, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Abnormal ad... ORPHA:2092
Myelofibrosis
Pallor, Purpura OMIM:254450
Chromosome 9P Deletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Omphalocele, Perimembranous ven... OMIM:158170
Conotruncal Heart Malformations
Double outlet right ventricle, Complete atrioventricular canal defect, Transposition of the great... OMIM:217095
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Atri... ORPHA:251071
Vacterl/Vater Association
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Omphalocele ORPHA:887
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextroca... ORPHA:261197
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia OMIM:609141
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Atrial septal defect, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia OMIM:235760
Seckel Syndrome 9
Ventricular septal defect, Atrial septal defect, Congenital diaphragmatic hernia OMIM:616777
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Elbow flexio... ORPHA:1692
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Joint contracture of the hand, Congenital diaphragmatic hernia, Congenital ... ORPHA:363528
Diets-Jongmans Syndrome
Ventricular septal defect, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:618846
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormality of the abdominal wall, Bicuspid aortic valve, Atrial septal defect, Congenital diaphr... OMIM:245600
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:2075
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Diamond-Blackfan Anemia 10
Ventricular septal defect, Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:613309
Zaki Syndrome
Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalo... ORPHA:2059
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Congenital diaphragmatic hernia, ... ORPHA:1780
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Ventricular septal defect, Omphalocele OMIM:243150
Miller-Dieker Lissencephaly Syndrome
Abnormality of the abdominal wall, Joint contracture of the hand, Inguinal hernia, Camptodactyly,... OMIM:247200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Syndactyly OMIM:615631
White-Sutton Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Facial hypotonia, Abnormal hear... ORPHA:468678
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Retinitis Pigmentosa 75
Pallor OMIM:617023
Irida Syndrome
Pallor ORPHA:209981
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, C... OMIM:617713
C Syndrome
Ventricular septal defect, Omphalocele OMIM:211750
Fibrochondrogenesis 1
Patent foramen ovale, Joint contracture of the hand, Omphalocele, Camptodactyly OMIM:228520
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Opitz Gbbb Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect... ORPHA:2745
Retinitis Pigmentosa 51
Pallor OMIM:613464
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Trisomy 18
Atrial septal defect, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septa... ORPHA:3380
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... ORPHA:2255
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Pagod Syndrome
Situs inversus totalis, Congenital diaphragmatic hernia, Omphalocele, Hypoplastic left heart ORPHA:991
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Inguinal herni... OMIM:265000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
Czeizel-Losonci Syndrome
Dextrocardia, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2437
Cyclic Vomiting Syndrome
Pallor OMIM:500007
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Evans Syndrome
Pallor, Petechiae ORPHA:1959
3Mc Syndrome 1
Ventricular septal defect, Abnormality of the abdominal wall, Atrial septal defect, Omphalocele OMIM:257920
Elliptocytosis 1
Pallor OMIM:611804
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
White-Sutton Syndrome
Patent foramen ovale, Facial hypotonia, Congenital diaphragmatic hernia, Atrial septal defect OMIM:616364
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
D-Lactic Aciduria With Gout
Inguinal hernia OMIM:245450
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Enamel hypoplasia, Ventricular septal defect... OMIM:600373
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, Adducted thumb, Pallor, Tapered finger, Congenital finger flexion contractures ORPHA:536516
Iniencephaly
Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele ORPHA:63259
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele ORPHA:2021
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Atrial septal defect, Ve... ORPHA:96121
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Camptodactyly, Ventricular septal defect, Patent foramen ovale, Omphalocele OMIM:616894
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... OMIM:300257
Cardiac-Urogenital Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Hypoplastic left heart, Scimitar anomaly, ... OMIM:618280
Beta-Thalassemia
Skin ulcer, Pallor ORPHA:848
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Mitral valve prola... OMIM:212093
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Simpson-Golabi-Behmel Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Macroglossia, Aplasia/Hyp... ORPHA:373
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplasti... OMIM:265380
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Ventricular septal defect, Lipo... ORPHA:79328
Limb Body Wall Complex
Diastasis recti, Atrial septal defect, Thoracoabdominal wall defect, Congenital diaphragmatic her... ORPHA:2369
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Adams-Oliver Syndrome 5
Right atrial enlargement, Inguinal hernia, Right ventricular hypertrophy, Pulmonic stenosis, Pate... OMIM:616028
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly, Pericarditis, Pericardial effusion ORPHA:1272
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Abnormal cardiac septum morphology, Camptodactyly of finger, Omp... ORPHA:90652
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal... OMIM:619343
Cornelia De Lange Syndrome 1
Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Elbow... OMIM:122470
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Inguinal hernia, Patent foramen ovale, Omphalocele OMIM:269860
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Omphalocele OMIM:619124
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Oligomeganephronia
Secundum atrial septal defect, Congenital diaphragmatic hernia ORPHA:2260
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Gm1 Gangliosidosis
Macroglossia, Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall ... ORPHA:354
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia OMIM:616546
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyper... OMIM:255120
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Joint contracture of the hand, Camptodactyly, Ventricular septal defect, Fl... OMIM:300373
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Holoprosencephaly
Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventri... ORPHA:2162
Fanconi Anemia, Complementation Group I
Absent thumb, Pallor, Hypoplasia of the radius, Short 1st metacarpal, Intrauterine growth retarda... OMIM:609053
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Umbilical hernia, Omphalocele ORPHA:2166
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Cold Agglutinin Disease
Pallor ORPHA:56425
Exstrophy-Epispadias Complex
Abnormality of the abdominal wall, Cloacal exstrophy, Inguinal hernia, Cystocele, Abdominal wall ... ORPHA:322
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia, Omphalocele ORPHA:1519
Cloacal Exstrophy
Cloacal exstrophy, Bladder exstrophy, Omphalocele ORPHA:93929
Primary Myelofibrosis
Pallor, Purpura, Ecchymosis, Petechiae ORPHA:824
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Histiocytoid ca... OMIM:309801
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Omphalocele ORPHA:436252
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:268249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Congenital diaphragmatic hernia OMIM:614080
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Femoral hernia, Inguinal hernia OMIM:223330
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... OMIM:619702
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Intrauterine growth retardation OMIM:266200
Necrotizing Enterocolitis
Gastroschisis, Abnormal heart morphology ORPHA:391673
Porphyria Cutanea Tarda
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... ORPHA:101330
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Omphalocele ORPHA:3186
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Bartsocas-Papas Syndrome 1
Inguinal hernia, Flexion contracture, Inferiorly positioned umbilicus, Patent foramen ovale, Arth... OMIM:263650
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Umbilical hernia OMIM:304110
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Omphalocele, Cardiomyopathy, Cardiomegaly OMIM:130650
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Ventricular septal defect, Complete atrioventricular canal defect, Omp... OMIM:236680
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele OMIM:616300
Fryns Syndrome
Atrial septal defect, Joint contracture of the hand, Aplasia of the left hemidiaphragm, Camptodac... OMIM:229850
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Beckwith-Wiedemann Syndrome
Diastasis recti, Congenital diaphragmatic hernia, Inguinal hernia, Macroglossia, Rhabdomyosarcoma... ORPHA:116
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Senior-Loken Syndrome 8
Pallor, Polydactyly OMIM:616307
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Gastroschisis OMIM:273395
Marshall-Smith Syndrome
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Omphalocele, Dysplastic aortic... OMIM:602535
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atriove... ORPHA:818
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Multiple joint contractures, Joint contracture of the hand, Inguinal hernia, Camptodactyly, Ventr... OMIM:218649
Esophageal Atresia
Ventricular septal defect, Tetralogy of Fallot, Omphalocele ORPHA:1199
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Tay-Sachs Disease
Pallor OMIM:272800
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... ORPHA:2729
Otopalatodigital Syndrome, Type Ii
Omphalocele OMIM:304120
Melnick-Needles Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Omphalocele OMIM:309350
Klippel-Trénaunay Syndrome
Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gastrointestinal hemorrhage, Co... ORPHA:90308
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Omphalocele OMIM:618419
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Rare Circulatory System Disease
Pallor, Abnormal metatarsal morphology, Abnormality of finger, Abnormal hand morphology ORPHA:98028
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Denys-Drash Syndrome
Congenital diaphragmatic hernia OMIM:194080
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Inguinal hernia OMIM:614437
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Atrial septal defect, Congenital diaphragmatic hernia, Hernia... ORPHA:280
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Hamamy Syndrome
Enamel hypoplasia, Complete atrioventricular canal defect, Atrial septal defect, Inguinal hernia OMIM:611174
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Congenital diaphragmatic hernia, Contracture of the proximal interphalangea... OMIM:301044
American Trypanosomiasis
Pallor ORPHA:3386
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Patent foramen ovale, Inguinal hernia ORPHA:221120
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:617641
Holoprosencephaly 7
Omphalocele OMIM:610828
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Diastasis recti, Flexion contracture of thumb, Atrial septal defect, Flexion contracture, Macrogl... ORPHA:96334
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Mi... ORPHA:2556
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Left ve... ORPHA:57777
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Umbilical hernia, Omphalocele ORPHA:920
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, Ventri... OMIM:157800
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Simpson-Golabi-Behmel Syndrome, Type 1
Diastasis recti, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Right ve... OMIM:312870
Letterer-Siwe Disease
Pallor OMIM:246400
Secondary Short Bowel Syndrome
Gastroschisis ORPHA:95427
Kabuki Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:2322
Focal Dermal Hypoplasia
Diastasis recti, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Enamel hypoplas... OMIM:305600
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Omphalocele ORPHA:1308
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Poland Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Ab... ORPHA:2911
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... ORPHA:1329
Coffin-Siris Syndrome 1
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Tetralogy of Fallot, Vent... OMIM:135900
Childhood Absence Epilepsy
Pallor ORPHA:64280
Bladder Exstrophy And Epispadias Complex
Bladder exstrophy, Inguinal hernia OMIM:600057
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Camptodactyly of finger, Omphalocele OMIM:249000
Oeis Complex
Cloacal exstrophy, Bladder exstrophy, Omphalocele OMIM:258040
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:200980
Fumarase Deficiency
Pallor OMIM:606812
Hereditary Spherocytosis
Skin ulcer, Pallor ORPHA:822
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Dominant Beta-Thalassemia
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones ORPHA:231226
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Monosomy 9P
Hernia, Congenital diaphragmatic hernia ORPHA:261112
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... OMIM:214800
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Camptodactyly OMIM:200110
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele OMIM:618820
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... OMIM:190685
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Meier-Gorlin Syndrome 7
Ventricular septal defect, Complete atrioventricular canal defect, Atrial septal defect OMIM:617063
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Tetralogy of Fallot, Gastroschisis OMIM:154400
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Diaphragmatic eventration, Aortopulmonary window, Aplasia of the left ... OMIM:620025
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... ORPHA:99827
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Aregenerative Anemia
Pallor ORPHA:101096
Beta-Thalassemia Major
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones ORPHA:231214
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... ORPHA:906
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal dental enamel morphology, Camptodactyly of finger, Inguinal hernia, Omphalocele ORPHA:2273
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Cornelia De Lange Syndrome
Ventricular septal defect, Atrial septal defect, Congenital diaphragmatic hernia ORPHA:199
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome