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Gene: Adam17 MGI:1096335

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Gene Summary

Name:
a disintegrin and metallopeptidase domain 17
Synonyms:
Tace,  CD156b

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Adam17tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal vibrissa morphology Adam17tm1a(EUCOMM)Wtsi HET Early adult 8.88×10-05

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 N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

14 Images

View images
Legacy Phenotype Associated Images
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI

View all 61 images

Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Adam17 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 Adam17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermatitis, Perianal... ORPHA:294023

The table below shows human diseases predicted to be associated to Adam17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:187950
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, Mi... OMIM:229200
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Cardiofaciocutaneous Syndrome 4
Cataract, Decreased response to growth hormone stimulation test, Telecanthus, Alopecia of scalp, ... OMIM:615280
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Ptosis, Corneal op... ORPHA:1067
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Noonan Syndrome 9
Sparse eyebrow, Downslanted palpebral fissures, Prominent corneal nerve fibers, Cryptorchidism, V... OMIM:616559
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio... OMIM:619773
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Brittle Cornea Syndrome
Corneal scarring, Mitral valve prolapse, Abnormality of hair pigmentation, Hernia, Pulmonic steno... ORPHA:90354
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Micropht... OMIM:212550
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Abnormal es... OMIM:226600
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microphthalmia/Coloboma 4
Microphthalmia, Microcornea, Coloboma, Orbital cyst OMIM:251505
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Elbow flexion contracture, Furrowed tong... OMIM:148210
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Abnormality of the nail, Sparse body hair, Curly eyelashes, Brittle hair, Curly h... OMIM:602400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Median cleft palate, Corneal opacity, Microphthalmia, Hepatomegaly ORPHA:2432
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo... OMIM:610921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, P... ORPHA:1473
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly ORPHA:79281
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Dermatitis, Atopic
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Pruritus, Con... OMIM:603165
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e... ORPHA:96125
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Idiopathic Achalasia
Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los... ORPHA:930
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Mucolipidosis Type Iii
Abnormal heart valve morphology, Inguinal hernia, Abnormal aortic valve morphology, Corneal opaci... ORPHA:577
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Downslanted palpebral fissures, Epicanthus, Hepatomegaly, High palate OMIM:614882
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Upslanted palpebral fissure, Epicanthus, Microphthalmia, High palate ORPHA:2528
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia OMIM:245650
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, High, narrow palate, Microcornea, Anterior synechiae of the anterior chamb... ORPHA:3214
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea OMIM:619398
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Apnea, Cyanosis, Epicanthus,... ORPHA:2257
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... ORPHA:70587
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Generalized hirsutism, Hernia, Cor... ORPHA:93476
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... ORPHA:137599
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Copper Deficiency, Familial Benign
Failure to thrive, Seborrheic dermatitis, Curly hair, Decreased circulating copper concentration,... OMIM:121270
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Noonan Syndrome 4
Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Hypertrophic cardiomyopat... OMIM:610733
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Noonan Syndrome 10
Sparse eyebrow, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Prominent corneal ne... OMIM:616564
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Osteomyelitis, Corneal scarring, N... OMIM:256800
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Gómez-López-Hernández Syndrome
Telecanthus, Toenail dysplasia, Alopecia of scalp, Corneal opacity ORPHA:1532
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia OMIM:614096
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... ORPHA:209959
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma OMIM:611638
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Porphyria Cutanea Tarda
Cutaneous abscess, Viral hepatitis, Hypertrichosis, Corneal scarring, Hirsutism, Scarring, Chroni... ORPHA:101330
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d... ORPHA:2302
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Ventricular septal... ORPHA:290
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Pulmonary hypoplasia OMIM:601809
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Erythroderma, Ectropion, Pruritus, Abnormality of the nail, Corneal erosion ORPHA:79394
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Traboulsi Syndrome
Cataract, Bifid uvula, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Microphthalm... OMIM:601552
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Corneal scarring, Frontal upsweep of hair, Broad eyebrow, Colitis, Bronchiec... OMIM:301220
Noonan Syndrome 8
Eczematoid dermatitis, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Cryptorchidis... OMIM:615355
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Small nail, Trichorrhexis nodosa, Microphthalmia, Nail dystrophy, Con... OMIM:234050
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Nail dysplasia, Micr... ORPHA:139471
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenes... OMIM:614195
Neurotrophic Keratopathy
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... ORPHA:137596
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Costello Syndrome
Keratoconus, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Abnormal hair morphology, Abno... ORPHA:3071
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Pigmentary retinopathy, Peters anomaly, Tricuspid regurgitatio... OMIM:618460
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Trichohepatoenteric Syndrome 2
Sparse hair, Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failu... OMIM:614602
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Cardiofaciocutaneous Syndrome 2
Fine hair, Mitral valve prolapse, Ptosis, Absent eyebrow, Curly hair, High palate, Sparse hair OMIM:615278
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon, Anophthalmia, Microphthalmia OMIM:611038
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne... ORPHA:2032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Low anterior hairline, Left ventricular hypertrophy, Coloboma, Retinal detachment, Corn... OMIM:613153
Trisomy 13
High, narrow palate, Cataract, Optic atrophy, Aplasia/Hypoplasia of the iris, Cryptorchidism, Ven... ORPHA:3378
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Pneumocystosis
Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ... ORPHA:723
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneu... ORPHA:90117
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Recurrent skin infections, Corneal ulceration, Gastrointestinal dysmotility OMIM:616488
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... OMIM:614170
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Chops Syndrome
High, narrow palate, Cataract, Optic atrophy, Coarse hair, Gastroesophageal reflux, Aspiration pn... OMIM:616368
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Alopecia, Atrichia, Abnormal heart morphology, Decreased testicular size, Cr... ORPHA:1867
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma OMIM:300915
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Downslanted palpebral fissures, Camptodactyly of finger, C... ORPHA:1617
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Aortic regurgitation, Sparse scalp hair, Eczematoid dermatitis, Downslanted pa... OMIM:607721
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Epicanthus, Distal arthrogryposis,... OMIM:108145
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Nocturnal hypoventilation, Lipoid pneumonia, Respiratory failure OMIM:620326
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Downslanted palpebral fissures, Abnormal heart morpho... OMIM:175700
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis, Obesity ORPHA:88643
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Abnormal optic nerve morphology, Megalocornea, Tricuspid regurgitation, Camp... ORPHA:1101
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Coarse hair, Downslanted palpebral fissures, Sparse eyelas... ORPHA:35173
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Downslanted palpebral fissures, Astigma... OMIM:152950
Dermoids Of Cornea
Corneal opacity OMIM:304730
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri... ORPHA:140896
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Absence o... OMIM:601675
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Gastroesophageal reflux, Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorr... OMIM:614653
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Developmental c... OMIM:618815
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, C... ORPHA:90654
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Downslanted palpebral fissures, Hypertrophic cardiomyopath... OMIM:611553
Noonan Syndrome 6
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Bilateral ptosis, Cryptorchidism, Lo... OMIM:613224
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Stillbirth, Pulmonary hypoplasia OMIM:617468
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Bowen-Conradi Syndrome
Death in infancy, Abnormal lung lobation ORPHA:1270
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Cleft palate OMIM:300261
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Bilateral ptosis, Respirato... ORPHA:254875
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia... ORPHA:79126
Noonan Syndrome 7
Palpebral thickening, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Low posterior ... OMIM:613706
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ... OMIM:620519
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Upslanted palpebral fissure, Developmental cataract, ... OMIM:617183
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Bifid uvula, Decreased testicular size, Cryptorchidism, Hirsutism, Abnorma... ORPHA:293967
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Skin rash, Generalized hirsutism, Abnormal testis m... ORPHA:317
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic... OMIM:608647
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Epicanthus, Hirsutism ORPHA:85288
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal pattern of respiration, Respiratory insufficiency ORPHA:724
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Punctate keratitis, Scarring alopecia of scal... OMIM:602540
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Microtriplication 11Q24.1
Keratoconus, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure, Cleft palate, Synophrys ORPHA:289522
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia, Res... ORPHA:264675
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... ORPHA:60032
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Highly arched eyebrow, Ectopia lentis, Intestinal malrotation, Flexion con... ORPHA:2712
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Retinopathy, Macular atrophy, Microphthalmia, Optic disc pa... OMIM:616171
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Trichohepatoneurodevelopmental Syndrome
Recurrent otitis media, Ventricular septal defect, Epicanthus, Curly hair, Hepatomegaly, High pal... OMIM:618268
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Oculodentodigital Dysplasia
Cataract, Microcornea, Optic atrophy, Abnormality iris morphology, Fine hair, Camptodactyly of fi... ORPHA:2710
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Abnormal hair morphology, Anophthalmia, Abnormal toenail morphology, Abnormal nasolac... ORPHA:2526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthu... OMIM:615877
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Porphyria, Congenital Erythropoietic
Alopecia, Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Hypertrichosi... OMIM:263700
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid... ORPHA:1794
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Recurrent respiratory infections, Ptosis, Pulmonary hypoplasia OMIM:255320
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Marsili Syndrome
Corneal scarring OMIM:147430
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Upslanted palpebral fissure, Cryptorchidism... ORPHA:496790
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Bifid uvula, Abnormal optic nerve morphology, Cryptorchidis... ORPHA:899
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Frontonasal Dysplasia 1
Cataract, Joint contracture of the hand, Tetralogy of Fallot, Median cleft palate, Pericallosal l... OMIM:136760
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Developmental cataract, Microphthalmia, Macroglossia, Abnormal left ventricular f... OMIM:613155
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Glossoptosis, Ventricular septal defect OMIM:614876
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Cleft palate OMIM:120433
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Braddock-Carey Syndrome 1
Anteriorly placed anus, Downslanted palpebral fissures, Telecanthus, Aortic valve prolapse, Ventr... OMIM:619980
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Ventricular septal defect, Low post... ORPHA:85194
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
Noonan Syndrome 2
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi... OMIM:605275
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Retinal de... ORPHA:542306
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Tachypnea, Pneumothorax, Acute infe... ORPHA:36238
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricu... OMIM:618652
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Ventricular septal defect, Microphthalmia, Hepatomegaly, Optic disc pallor OMIM:613730
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Abnormal EKG, Abnormal heart morphology, Cherry red spot of the macula, ... ORPHA:93400
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Ventricular septal def... ORPHA:141099
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Facial hypertrichosis, Hypertrichosis, Cryptorchidism, Ptosis, Develo... OMIM:600118
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Anophthalmia, Coloboma, Micro... OMIM:610125
Aids Wasting Syndrome
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia ORPHA:90081
Naxos Disease
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair ORPHA:34217
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Downslanted p... OMIM:620609
Naxos Disease
Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Sparse eyebrow, Subu... OMIM:601214
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Retinal degeneration, Cardiomegaly, Arrhythmi... OMIM:266500
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Upslanted palpebral fissure, Astigmatism, Knee flexion contract... OMIM:619694
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Leopard Syndrome 3
Palpebral thickening, Downslanted palpebral fissures, Tetralogy of Fallot, Abnormal aortic valve ... OMIM:613707
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Anophthalmia Plus Syndrome
Anophthalmia, Eyelid coloboma, Bilateral cleft palate, Blepharophimosis, Iris coloboma, Cleft palate ORPHA:1104
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Bilateral microphthalmos, Lacrimal pun... ORPHA:2399
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Hooded eyelid, Upslanted palpebral fissure, Mitral valve prolapse, Dyspl... OMIM:612863
Transketolase Deficiency
Cataract, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Seborrheic ... ORPHA:488618
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress ORPHA:2004
Morquio Syndrome C
Corneal opacity OMIM:252300
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... OMIM:602482
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Gastroesophageal reflux, Peters anomaly, Chorioretinal coloboma, Abnormal heart mo... ORPHA:494344
Encephalocraniocutaneous Lipomatosis
Alopecia, Subcutaneous lipoma, Hypoplasia of the iris, Cryptorchidism, Eyelid coloboma, Ventricul... OMIM:613001
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract, Low anterior hairline, Atrial septal defect, Ventricular septal defect OMIM:608227
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Downslanted palpebral fissures, Respiratory distress, Epicanthus, Dyspnea, Recurrent respiratory ... ORPHA:2759
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Visceromegaly, Cherry red spot of the macula, Abnormal heart morphology,... ORPHA:93399
Cat-Eye Syndrome
Chorioretinal coloboma, Downslanted palpebral fissures, Microphthalmia, Anal atresia, Iris coloboma ORPHA:195
Harlequin Ichthyosis
Ectropion, Cataract, Sudden cardiac death, Erythroderma ORPHA:457
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Nail dystrophy ORPHA:46487
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Death in infancy, Pulmonary hypoplasia OMIM:256050
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Ptosis, Mitral valve prolapse ORPHA:2868
Arterial Tortuosity Syndrome
Aortic valve stenosis, Keratoconus, Ventricular hypertrophy, Short palpebral fissure, Aortic regu... OMIM:208050
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Cockayne Syndrome Type 2
Anophthalmia, Cryptorchidism, Scarring, Enamel hypoplasia, Developmental cataract, Hepatomegaly, ... ORPHA:90322
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Microphthalmia, Bilateral cleft palate,... OMIM:619339
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Highly arched eyebrow, Chorioretinal coloboma, Cryptorchidism, Low posteri... OMIM:243310
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis ORPHA:1303
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Retinal degeneration, Corneal opacity OMIM:607016
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Mitral valve prolapse, Anophthalmia, Abnormal nasolacrimal system morpholog... ORPHA:2556
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Syndromic 8
Microcornea, Short palpebral fissure, Cryptorchidism, Blepharophimosis, Microphthalmia, Cleft palate OMIM:601349
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Achlorhydria, Corneal opacity, Opacification of the corneal ... OMIM:252650
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus, Cleft palate OMIM:244600
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia ORPHA:1302
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Microspherophakia, Ectopia lentis, Shallow anterior chamber, Pulmonic sten... OMIM:614819
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Alagille Syndrome
Keratoconus, Downslanted palpebral fissures, Abnormal pupil morphology, Cryptorchidism, Ventricul... ORPHA:52
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia ORPHA:70588
Leopard Syndrome 2
Hypertrophic cardiomyopathy, Epicanthus, Curly hair, Downslanted palpebral fissures OMIM:611554
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Upslanted palpebral fissure, Epicanthus, Optic... ORPHA:401777
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Bilateral ptosis, Corneal scarring, Impaired oral bolus fo... ORPHA:404454
Frontofacionasal Dysplasia
Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma... ORPHA:1791
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Abnormal hair morphology, Astigmatism, Macular dots, Enam... OMIM:270200
Cataract 42
Cataract, Developmental cataract OMIM:115900
Xfe Progeroid Syndrome
Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels, Absence of subcutaneous fa... OMIM:610965
Trichothiodystrophy
Cryptorchidism, Ventricular septal defect, Epicanthus, Brittle hair, Split nail, High, narrow pal... ORPHA:33364
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Sparse medial eyebrow, Muscular ventricular septal defect, Epicanthus, Per... OMIM:618804
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Curly hair, Pulmoni... OMIM:615279
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Noonan Syndrome 14
Aortic regurgitation, High, narrow palate, Sparse eyebrow, Downslanted palpebral fissures, Hypert... OMIM:619745
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio... ORPHA:79098
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353277
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal hea... ORPHA:1345
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Ventricular septal defect, Camptodactyly of t... ORPHA:251038
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Pancreatitis, Reduced systolic function, Microphthalmia, Hepato... OMIM:618805
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Congestive heart failure, Astigmatism, Cardiomegaly, Perica... OMIM:253250
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Pierpont Syndrome
Microcornea, High anterior hairline, Telecanthus, Cryptorchidism, Abnormal subcutaneous fat tissu... ORPHA:487825
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Small nail, Downslanted palpebral fissures, Telecanthus, Astigmatism, Cryptorchidism,... OMIM:301056
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Vaginal hernia, Optic disc... ORPHA:3173
Microphthalmia/Coloboma 9
Microcornea, Microphthalmia, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Narr... OMIM:615145
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Narrow palpebral fissure, Pulmonary hypoplasia OMIM:236500
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d... OMIM:615767
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Joint contractu... OMIM:615704
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Avian Influenza
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Conjunctivit... ORPHA:454836
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Short palpebral fissure, Chorioretinal coloboma, Downslanted palpebral f... ORPHA:284169
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Waardenburg Syndrome Type 3
Atelectasis, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Blepharophimosis, Acrocy... ORPHA:896
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Erythroderma, Conjunctivitis, Sparse hair, Fragile nails OMIM:242150
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Respiratory failure ORPHA:70578
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Horizontal eyebrow, Retinal coloboma, Abnormal heart morphology, Astigmatism, Epicanthu... OMIM:618571
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Short palpebral fissure, Gastroesophageal reflux, Mitral valve prolapse, Almond-shaped palpebral ... OMIM:300986
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Camptodac... ORPHA:284160
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cofs Syndrome
Cataract, Optic atrophy, Camptodactyly of finger, Abnormality of retinal pigmentation, Microphtha... ORPHA:1466
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:224410
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia, Retinal dys... ORPHA:324416
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Agnathia-Otocephaly Complex
Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:202650
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Short palpebral fissure, Gastroesophageal reflux, Telecanthus, Thick eyebr... OMIM:617360
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Refsum Disease
Cataract, Cardiomyopathy, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Nail dy... ORPHA:773
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin, Microphthalmia ORPHA:291
Fetal Akinesia Syndrome, X-Linked
Telecanthus, Blepharophimosis, Narrow palpebral fissure, Stillbirth OMIM:300073
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Pierpont Syndrome
Microcornea, High anterior hairline, Unilateral narrow palpebral fissure, Telecanthus, Cryptorchi... OMIM:602342
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Mitral regurgitation, Ventricular septal defect, Low posterior hairline, Epicanth... OMIM:617506
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
1Q21.1 Microduplication Syndrome
Cataract, Gastroesophageal reflux, Tetralogy of Fallot, Cryptorchidism, Arthrogryposis multiplex ... ORPHA:250994
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse eyebrow, Downslanted palpebral fissures, Patent foramen ovale, Epicanthus, Atrial septal d... OMIM:620075
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Gastroesophageal reflux, Recurrent pneumonia, Downslanted palpebral fissur... OMIM:616449
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Epicanthus, Chorioretinal coloboma ORPHA:2489
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Stiff Skin Syndrome
Cataract, Gastroesophageal reflux, Elbow flexion contracture, Knee flexion contracture, Bicuspid ... OMIM:184900
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Mic... ORPHA:1806
Zellweger Syndrome
Cataract, Optic atrophy, Cryptorchidism, Upslanted palpebral fissure, Ventricular septal defect, ... ORPHA:912
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Developmental And Epileptic Encephalopathy 35
Cataract, Cardiomyopathy OMIM:616647
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cat Eye Syndrome
Chorioretinal coloboma, Ventricular septal defect, Epicanthus, Atrial septal defect, Rectal atres... OMIM:115470
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Laterall... OMIM:300166
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Weill-Marchesani Syndrome
Aortic valve stenosis, Cataract, Ectopia lentis, Mitral regurgitation, Ventricular septal defect,... ORPHA:3449
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein... ORPHA:103910
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Sialidosis Type 2
Abnormal macular morphology, Umbilical hernia, Inguinal hernia, Splenomegaly, Corneal opacity, He... ORPHA:87876
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos... ORPHA:199241
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Recurrent otitis media, Umbilical hernia, Mitral ... ORPHA:423461
Neovascular Glaucoma
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... ORPHA:94058
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia, Ventricular septal defect, Abnormal toenail morphology, Curly hair, High pa... ORPHA:444077
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Upslanted palpebral fissure, Bone spicule pigment... OMIM:616108
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Splenom... ORPHA:585
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Thanatophoric Dysplasia
Respiratory insufficiency, Downslanted palpebral fissures, Pulmonary hypoplasia ORPHA:2655
Tangier Disease
Nail dystrophy, Splenomegaly, Hepatomegaly, Left ventricular hypertrophy, Nail dysplasia, Cicatri... OMIM:205400
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, L... OMIM:618175
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Pterygium, Hypertrophic cardiomyopa... OMIM:618052
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Long palpebral fissure, Ptosis, Corneal opacity, Narrow palate OMIM:620469
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Dysphagia, Bilateral ptosis ORPHA:329314
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Telecanthus, A... ORPHA:3163
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Ptosis, Highly arched eyebrow OMIM:616154
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Umbilical hernia, Inguinal hernia, Epicanthus, Ptosis ORPHA:1373
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Pulmonary hypoplasia, Telecanthus, Abnormal lung lobation OMIM:263210
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia ORPHA:52416
Atelis Syndrome 1
Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Glue ear, Ventricular septal def... OMIM:620184
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Short 5th metacarpal, Bicuspid aortic valve, Brachydactyly, Clinodactyly... OMIM:604381
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... ORPHA:499
Temtamy Syndrome
Telecanthus, Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency OMIM:178550
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Sparse hair, Alopecia, Coarse hair, Pneumonia, Recurrent pneumonia, Chro... OMIM:158310
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Failure to thrive, Projectile vomiting, Weight loss,... OMIM:620045
Cardiofaciocutaneous Syndrome 1
Atopic dermatitis, Palpebral thickening, Gastroesophageal reflux, Downslanted palpebral fissures,... OMIM:115150
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Metachondromatosis
Bowing of the long bones, Multiple enchondromatosis, Pulmonic stenosis, Downslanted palpebral fis... OMIM:156250
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Coloboma,... OMIM:206900
Laryngeal Neuroendocrine Tumor
Weight loss, Elevated circulating carcinoembryonic antigen concentration, Oral-pharyngeal dysphag... ORPHA:100083
Down Syndrome
Keratoconus, Cataract, Gastroesophageal reflux, Secundum atrial septal defect, Narrow palate, Duo... ORPHA:870
Arterial Tortuosity Syndrome
Keratoconus, Short palpebral fissure, Dilated cardiomyopathy, Gastroesophageal reflux, Pyloric st... ORPHA:3342
Alport Syndrome
Anterior lenticonus, Posterior subcapsular cataract, Macular degeneration, Abnormal corneal endot... ORPHA:63
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Woolly hair, Sud... OMIM:610476
Even-Plus Syndrome
Cataract, Highly arched eyebrow, Atopic dermatitis, Patent foramen ovale, Atrial septal defect, H... OMIM:616854
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Short 5th metacarpal, Short digit ORPHA:228190
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Telecanthus, Neonatal death, Jaundice, Pulmonary hypoplasia OMIM:231680
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnut... ORPHA:2494
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse... ORPHA:1234
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Cryptorchidism, Orbital cyst, Eyelid coloboma, Microphthalmia, Cleft palate OMIM:164180
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Cryptophthalmos, Abnormality of the hairline, Eyelid colob... OMIM:248450
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Recurrent sinusitis, Achalasia, Furuncle, Decrea... OMIM:618969
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Fetal Akinesia Deformation Sequence
Pterygium, Respiratory insufficiency, Pulmonary hypoplasia ORPHA:994
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Downslanted ... OMIM:218340
Alopecia Totalis
Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc... ORPHA:700
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Patchy alopecia, Eryt... OMIM:302960
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC... OMIM:610978
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Ridged nail, Ptosis, Anonychia, Lester's sign, Glomerulonephr... OMIM:161200
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Corneal scarring, Recurrent corneal erosions, Hepatomegaly, Osteomyelitis leading to amputation d... OMIM:256810
Galactosemia Iv
Hepatomegaly, Cataract OMIM:618881
Lowry-Maclean Syndrome
Generalized hypertrichosis, High, narrow palate, Downslanted palpebral fissures, Atrioventricular... ORPHA:2409
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract, Omphalocele, Ventricular septal defect ORPHA:93267
Tetrasomy 5P
Respiratory distress, Upslanted palpebral fissure, Cyanosis, Epicanthus, Recurrent respiratory in... ORPHA:3309
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen... OMIM:155100
Cockayne Syndrome Type 1
Cataract, Optic atrophy, Pigmentary retinopathy, Foot joint contracture, Cryptorchidism, Anophtha... ORPHA:90321
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W... ORPHA:26790
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Fine hair, Downslanted palpebral fissures, Abnormal heart morpholog... OMIM:300978
Holoprosencephaly
Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Ventricular septal defect, Congenital diaph... ORPHA:2162
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Retinal coloboma, Intestinal malrotation, Camptodactyly ... OMIM:244300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Eczematoid dermatitis, Downslanted palpebral fissures, Thick eyebrow, Astigm... ORPHA:369950
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the mitral valve, Mitral valve prolapse, Bicuspid aortic valve, Ptosis... OMIM:314400
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Congestive heart failure, Death in childhood, Splenomega... OMIM:269920
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Distal Duplication 6P
Cataract, Fine hair, Hernia, Ptosis, Blepharophimosis, Abnormal hair quantity, Abnormal eyelash m... ORPHA:1745
Alpha-Mannosidosis
Cataract, Splenomegaly, Inguinal hernia, Arthritis, Corneal opacity, Hepatomegaly, Macroglossia, ... ORPHA:61
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Stickler Syndrome Type 1
Cataract, Mitral valve prolapse, Abnormal vitreous humor morphology, Retinal detachment, Osteoart... ORPHA:90653
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1046
Lymphedema-Distichiasis Syndrome
Cellulitis, Yellow nails, Tetralogy of Fallot, Ventricular septal defect, Recurrent corneal erosi... OMIM:153400
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Bilateral ptosis, Recurrent otitis media, Umbilical hernia,... OMIM:607014
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H... ORPHA:79127
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Congenital Fibrinogen Deficiency
Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Abnormality of the subungual regio... ORPHA:335
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Downslanted palpebral fissures, Cleft soft palate, Esophageal atresia, Atrial sep... OMIM:614526
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract, Recurrent pneumonia, Gastroesophageal reflux ORPHA:3137
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Cryptorchidism, Rod-cone dystrophy, Microphthalmia ORPHA:363741
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Eczematoid dermatitis, Hypertrichosis, Coloboma, Microphthalmia, Dysphagia OMIM:612379
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Multiple Pterygium Syndrome, X-Linked
Epicanthus, Multiple pterygia, Pulmonary hypoplasia OMIM:312150
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Pigmentary retinopathy, Peters anomaly, Downslanted palpebral fissures, ... OMIM:612582
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal thickenin... OMIM:614370
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Gapo Syndrome
Sparse hair, Keratoconus, Alopecia, Sparse eyebrow, Optic atrophy, High, narrow palate, Megalocor... OMIM:230740
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Nail dystrophy, Juvenile cataract, Absent eyelashes, Absent eyebrow, Thin... OMIM:618625
Warburg Micro Syndrome 3
Cataract, Microcornea, Optic atrophy, Hypertrichosis, Decreased testicular size, Low anterior hai... OMIM:614222
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic atrophy, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Coloboma, Ret... ORPHA:370959
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf... ORPHA:60025
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Telecanthus, Thick eyebrow, Anophthalmia, Low anterior hairline, Synophrys ORPHA:411986
Mucopolysaccharidosis Type 1
Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve morpho... ORPHA:579
Focal Myositis
Myositis, Weight loss, Elevated circulating creatine kinase concentration ORPHA:48918
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:3035
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Malabsorption, Villous atrophy, Ab... ORPHA:95427
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Narrow palate, Fair hair, Eczematoid dermatitis, Cryptorchidism,... OMIM:610443
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Cryptorchidism, Rod-cone dystrophy, Microphthalmia OMIM:601794
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Alopecia, Retinopathy, Abnormal nasolacrimal system morphology, Tricuspid ... ORPHA:2396
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia of the lens, Anal atresia ORPHA:1381
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Apneic episodes p... OMIM:254210
Hurler Syndrome
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto... ORPHA:93473
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration, Microphthalmia, Shallow ante... OMIM:267760
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... ORPHA:60033
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Oculodentodigital Dysplasia
Cataract, Microcornea, Dry hair, Short palpebral fissure, Uveitis, Fine hair, Joint contracture o... OMIM:164200
Trichothiodystrophy 3, Photosensitive
Cataract, Meckel diverticulum, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail banding... OMIM:616395
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Lymphocytic interstitial pn... ORPHA:133
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of... ORPHA:42665
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Cryptorchidism, Ups... ORPHA:163654
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis OMIM:617006
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Congestive heart failure, Umbilical hernia, Cryptorchidism, Retinopathy, Inguinal he... ORPHA:2505
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia ORPHA:747
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Koolen-De Vries Syndrome
High, narrow palate, Cataract, Narrow palate, Abnormal dental enamel morphology, Cryptorchidism, ... ORPHA:96169
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
High, narrow palate, Cataract, Downslanted palpebral fissures ORPHA:3433
Incontinentia Pigmenti
Supernumerary nipple, Abnormal hair morphology, Abnormal toenail morphology, Retinal detachment, ... ORPHA:464
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Eczematoid dermatitis, Sparse body hair, Congenital onyc... ORPHA:2890
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling, Downslanted palpebral fissures, Epicanthus, Microp... OMIM:614105
Rodrigues Blindness
Microcornea, Fine hair, Microphthalmia, Sclerocornea, Sparse hair OMIM:268320
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:237800
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Anal stenosis, Umbilical hernia, Abnormal heart morphology, Telecanthus, Cryptorchid... OMIM:601499
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Hypertrichosis, Telecanthus, Mitral valve prolapse, Ptosis, Hypoparathyroidism OMIM:247410
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Xp22.3 Microdeletion Syndrome
Ectopic anus, Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye, Polycyst... ORPHA:1643
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Decreased testicular size, Cryptorchidism, Low anterior hairline, Hir... OMIM:615663
Neuralgic Amyotrophy
Epicanthus, Short palpebral fissure, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Secretory diarrhea, Failure to thrive, Increased circulating ferritin concentrat... OMIM:616050
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Congenital Arthrogryposis With Anterior Horn Cell Disease
Downslanted palpebral fissures, Neonatal death, Ptosis, Respiratory insufficiency due to muscle w... OMIM:611890
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... OMIM:167730
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Multiple Pterygium Syndrome, Lethal Type
Epicanthus, Multiple pterygia, Pulmonary hypoplasia OMIM:253290
Adams-Oliver Syndrome 2
Optic atrophy, Alopecia, Small nail, Low anterior hairline, Developmental cataract, Narrow palpeb... OMIM:614219
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... ORPHA:98813
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Cardiomyopathy OMIM:615352
Fetal Minoxidil Syndrome
Generalized hirsutism, Umbilical hernia, Ventricular septal defect ORPHA:1918
Hawkinsinuria
Abnormal circulating tyrosine concentration, Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Comedonal acne, Absent foveal reflex, Iris coloboma, Ret... OMIM:615147
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Apneic episodes p... OMIM:605809
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
19Q13.11 Microdeletion Syndrome
Cataract, Microcornea, Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent ... ORPHA:217346
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Joint contracture of the hand, Abnormal heart morphology, Opaci... OMIM:214110
Catel-Manzke Syndrome
Highly arched eyebrow, Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, ... ORPHA:1388
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:250999
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Folliculitis, Nail dystrophy, Sparse eyelashes, Na... OMIM:612843
Chime Syndrome
Fine hair, Retinal coloboma, Tetralogy of Fallot, Upslanted palpebral fissure, Ventricular septal... ORPHA:3474
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract, Myofiber disarray, Cardiomyopathy OMIM:301075
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... ORPHA:388
Mucopolysaccharidosis, Type Vii
Coarse hair, Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Recurrent otitis ... OMIM:253220
Zika Virus Disease
Myelitis, Optic disc hypoplasia, Retinal pigment epithelial mottling, Pruritus, Chorioretinal atr... ORPHA:448237
Galactosemia Ii
Cataract OMIM:230200
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Bifid uvula, Fine hair, Downslanted palpebral fissures, Tetralogy of Fallot... OMIM:222470
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Alpha-1-Antitrypsin Deficiency
Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Intellectual Developmental Disorder, Autosomal Dominant 34
Coarse hair, Bilateral ptosis, Upslanted palpebral fissure, Epicanthus, Curly hair, Synophrys OMIM:616351
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v... OMIM:615184
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Upslanted palpebral fiss... OMIM:145420
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Furrowed tongue, Tracheoesophageal fistula, Anorectal anomaly, Spa... ORPHA:1839
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Bicuspid aortic valve, Coloboma, ... OMIM:619318
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Alg2-Cdg
Cataract, Downslanted palpebral fissures, Epicanthus, Hepatomegaly, Iris coloboma ORPHA:79326
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Dilated cardiomyopathy, Premature graying of hair, Decreased response to growth hormone... ORPHA:280679
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Finger joint contracture, Microphthalmia, Flexion contracture of toe ORPHA:48431
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Optic atrophy, Gastroesophageal reflux, Fair hair, Astigmatis... ORPHA:72
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Elevated circulating C-reactive protein concentration, Colitis, Sterile arthritis, Cys... OMIM:604416
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Abnormal mitral valve morphology, Generalized hirsutism, Rod-cone dystrophy... ORPHA:581
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Distal Deletion 19P
Tricuspid valve prolapse, Thick eyebrow, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Ankyloglossia, Unilateral microphthalmos, Alopecia of scalp, Mitral valve prolaps... OMIM:618874
Gm1 Gangliosidosis
Optic atrophy, Gastroesophageal reflux, Cardiomyopathy, Congestive heart failure, Abnormal heart ... ORPHA:354
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Pruritus, Dysp... ORPHA:411777
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ... OMIM:606763
Malignant Atrophic Papulosis
Cataract, Gastrointestinal hemorrhage, Arteritis, Abnormal optic nerve morphology, Intestinal fis... ORPHA:679
Eosinophilic Gastroenteritis
Allergic rhinitis, Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Hematochezia, Vomiting,... ORPHA:2070
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Mitral valve prolapse, Ptosis, Pulmonic s... ORPHA:228410
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Highly arched eyebrow, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Horizontal eyebrow, Bilateral microphthalmos, Umbilical hernia,... ORPHA:369891
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Megalocornea, Ventricular septal defect, Polycystic ovaries, Micr... ORPHA:137675
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Epicanthus, Pulmonary hypoplasia OMIM:608022
Atelis Syndrome 2
Short palpebral fissure, Gastroesophageal reflux, Dacryocystocele, Epicanthus, Vitreous hemorrhag... OMIM:620185
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cerebrooculofacioskeletal Syndrome 1
Cataract, Recurrent pneumonia, Joint contracture of the hand, Elbow flexion contracture, Cryptorc... OMIM:214150
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Cryptorchidism, Inguinal hernia, Choroideremia,... ORPHA:2719
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Snijders Blok-Campeau Syndrome
Umbilical hernia, Astigmatism, Inguinal hernia, Epicanthus, Perimembranous ventricular septal def... OMIM:618205
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Long eyelashes, Astigmatism, Skin rash, Low posterior hairline, P... OMIM:617523
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Neuraminidase Deficiency
Cataract, Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Inguinal hernia, Cardiomeg... OMIM:256550
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Blepharophimosis ORPHA:2570
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Macroglossia, Pneumonia, Hepatosplenomegaly, Recurrent gastroente... ORPHA:309288
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Focal Dermal Hypoplasia
Chorioretinal coloboma, Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Micro... ORPHA:2092
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Melanocytic nevus, Ventricular septal defect, Epic... ORPHA:261120
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Opacification of the corneal stroma, Nail dystrop... OMIM:614594
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma... ORPHA:2611
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Aortic Valve Disease 3
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect OMIM:618496
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:187600
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Decreased testicular size, Aniridia, Ptosis, Corneal op... OMIM:612469
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Telecanthus, White forelock, Abnormality o... ORPHA:895
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity ORPHA:1064
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia, Respiratory distress, Downslan... ORPHA:314655
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Erythroderma ORPHA:312
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment, Microphthalmia ORPHA:627
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Shallow orbits, Microphthalmia, Iris transillumination defect OMIM:617306
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Pulmonary hypoplasia, Pulmonary artery atresia, Recurrent respiratory infe... OMIM:618316
Cohen Syndrome
High, narrow palate, Optic atrophy, Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissu... ORPHA:193
Phace Syndrome
Retinal vascular malformation, Cataract, Optic nerve hypoplasia, Abnormal heart morphology, Tetra... ORPHA:42775
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct atresia, Histiocytoid cardiomyo... OMIM:300952
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Highly arched eyebrow, Tetralogy of Fallot, Nail dystrophy, Congenital d... OMIM:300887
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema ORPHA:449280
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Death in infancy, Bicuspid aortic valve, Double outlet right ventricle, S... OMIM:618845
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Abnormal ... ORPHA:1352
Fucosidosis
Cardiomegaly, Corneal opacity, Hepatomegaly, Lipoatrophy, Abnormality of the nail ORPHA:349
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, P... OMIM:211530
Hydroa Vacciniforme
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... ORPHA:330058
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Li-Campeau Syndrome
Hypertrichosis, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Patent foramen ovale,... OMIM:619189
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hypomelanosis Of Ito
Cataract, Alopecia, Iris coloboma, Epicanthus OMIM:300337
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Eczematoid dermatitis, Decreased response to growth hormone stimulation test... ORPHA:488632
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement OMIM:615377
Adams-Oliver Syndrome
Cataract, Alopecia, Gastrointestinal hemorrhage, Hypoplastic fingernail, Tetralogy of Fallot, Abn... ORPHA:974
Cronkhite-Canada Syndrome
Cataract, Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Abnormal fi... ORPHA:2930
Congenital Myopathy 17
Respiratory insufficiency, Downslanted palpebral fissures, Telecanthus, Respiratory tract infecti... OMIM:618975
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypertrophic cardiomyopathy, Developmental cataract, Brittle hair, Hepatomegaly, ... OMIM:618810
Otodental Syndrome
Cataract, Microcornea, Otitis media with effusion, Periodontitis, Retinal coloboma, Abnormal dent... ORPHA:2791
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Blepharitis, Keratitis, Folliculitis, Nail dystrophy, Sparse eyelashes, Dystrophi... OMIM:308800
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Microphthalmia, Sparse hair, O... OMIM:308300
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia, Corneal opacity OMIM:166300
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Septic arthritis, Fasciitis, Osteomyelitis, Corneal scarring, Orthosta... ORPHA:642
Mosaic Trisomy 9
Small nail, Camptodactyly of finger, Abnormal heart valve morphology, Intestinal malrotation, End... ORPHA:99776
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age, Lactose intolerance, Protuberant abdo... ORPHA:457485
Jacobsen Syndrome
Optic atrophy, Microcornea, Annular pancreas, Chorioretinal coloboma, Telecanthus, Cryptorchidism... OMIM:147791
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Weight loss, Macrogloss... ORPHA:2221
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Pigmentary retinopathy, Peters anomaly, Colonic atresia... OMIM:309801
Mevalonic Aciduria
Cataract, Splenomegaly, Downslanted palpebral fissures ORPHA:29
Primary Ciliary Dyskinesia
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respirator... ORPHA:244
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Attenuation of retinal blood vessels,... ORPHA:791
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyebrow, Optic atrophy, Umbilical hernia, Sparse eyelashes, Palpebr... ORPHA:2067
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Villous atrophy, Re... OMIM:256500
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Respiratory insufficiency, Alveolar capillary dysplasia, Bilateral... OMIM:601186
Baralle-Macken Syndrome
High, narrow palate, Cataract, Upslanted palpebral fissure, Hirsutism OMIM:619255
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Kapur-Toriello Syndrome
Retinal coloboma, Tetralogy of Fallot, Intestinal malrotation, Ventricular septal defect, Microph... ORPHA:2328
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Meckel Syndrome
Cataract, Microcornea, Optic atrophy, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs in... ORPHA:564
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Respiratory failure OMIM:618637
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Cataract ORPHA:2278
Trisomy 1Q
Aplasia/Hypoplasia of the nails, Downslanted palpebral fissures, Camptodactyly of finger, Cryptor... ORPHA:261344
Fabry Disease
Mitral regurgitation, Arrhythmia, Achalasia, Cataract, Hypertrophic cardiomyopathy, Bundle branch... ORPHA:324
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Astigmatism, Cardiomegaly, Left ventricular hypertrophy, Ptosis, Hepatomegaly, Ca... OMIM:617713
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Vacterl With Hydrocephalus
Microcornea, Abnormal optic nerve morphology, Femoral hernia, Cryptorchidism, Anophthalmia, Ingui... ORPHA:3412
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Hypopigmentation of the fundus, Long palpebral fissure, Epicanthus, Retinal detachment,... ORPHA:163649
Noonan Syndrome 11
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Ptosis, Atrial septal defect, Pulmon... OMIM:618499
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Astigmatism, Upslanted palpebral fissure, Epicanthus, Long palpebral fissure, Narrow p... ORPHA:363686
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Joint contracture of the 5th finger, Patent foramen ovale, Inguinal hernia, Joi... OMIM:618914
3Q29 Microdeletion Syndrome
Cataract, Gastroesophageal reflux, Downslanted palpebral fissures, Pulmonary arterial hypertensio... ORPHA:65286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Eyelid coloboma, Cryptorchidism, Congenital diaphragmat... ORPHA:1647
Craniofrontonasal Syndrome
Axillary pterygium, Downslanted palpebral fissures, Umbilical hernia, Breast hypoplasia, Telecant... OMIM:304110
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Respiratory infections in early life, Miscarriage, Pulmonary hypop... ORPHA:96179
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Ectopia lentis, Inguinal hernia, Mitral valve prolapse, Pancreatitis, Brittle hair, Lens subluxat... OMIM:236200
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entr... OMIM:278730
Adams-Oliver Syndrome 4
Toenail dysplasia, Umbilical hernia, Hypoplastic toenails, Ventricular septal defect, Atrial sept... OMIM:615297
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:474
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Downslanted palpebral fissures, Stomach cancer, Intestinal polypo... ORPHA:1052
Lissencephaly 8
Cataract, Optic atrophy, Microphthalmia OMIM:617255
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Epicanthus, Arrhythmia, Subvalvular aortic stenosis, Microphthalmia, Membranous ... ORPHA:3191
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Ptosis, Decreased testicular size ORPHA:1875
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Cerebrooculofacioskeletal Syndrome 2
Cataract, Camptodactyly of finger, Developmental cataract, Microphthalmia, Sparse hair OMIM:610756
Flynn-Aird Syndrome
Cataract, Alopecia, Alopecia of scalp, Rod-cone dystrophy OMIM:136300
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness OMIM:300580
Coffin-Siris Syndrome 8
Failure to thrive, Eczematoid dermatitis, Hypertrichosis, Long eyelashes, Thick eyebrow, Feeding ... OMIM:618362
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia, Pericardial effusion, Enlarged kidney, Cleft palate OMIM:613885
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... OMIM:618131
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Epicanthus, Posterior embryotoxon, Atrial septal defec... ORPHA:567
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Neonatal respiratory distress, Popliteal pterygium, Downslanted palpebral fis... ORPHA:2990
Wagr Syndrome
Cataract, Ptosis, Aplasia/Hypoplasia of the iris, Cryptorchidism ORPHA:893
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... ORPHA:75566
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... OMIM:613426
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Developmental cataract, Uv... OMIM:617044
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial mo... OMIM:612387
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Crypto... OMIM:614230
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Hepat... OMIM:607624
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Respiratory insuffi... ORPHA:308552
Vogt-Koyanagi-Harada Disease
Cataract, Premature graying of hair, Abnormal eyebrow morphology, Retinal detachment, Abnormal ey... ORPHA:3437
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Large for gestational age, Feeding difficulties, Curly hair OMIM:616638
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Dea... OMIM:608978
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Corneal opacity ORPHA:281090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ... OMIM:615981
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair, Juvenile cataract ORPHA:1264
Noonan Syndrome 3
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular s... OMIM:609942
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis, Eczematoid dermatitis, Fine hair OMIM:272300
Martsolf Syndrome 1
Cataract, Cardiomyopathy, Downslanted palpebral fissures, Congestive heart failure, Cryptorchidis... OMIM:212720
Fryns Syndrome
Gastroesophageal reflux, Hypoplastic fingernail, Tetralogy of Fallot, Intestinal malrotation, Cry... ORPHA:2059
Sialidosis Type 1
Cataract, Cherry red spot of the macula, Retinopathy, Splenomegaly, Hernia, Corneal opacity ORPHA:812
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis, Downslanted palpebral fissures OMIM:301950
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interp... OMIM:607015
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Facial telangiectasia, Inguinal hernia, Contracture of the proximal interphal... OMIM:620141
Dahlberg-Borer-Newcomer Syndrome
Cataract, Telecanthus, Mitral valve prolapse, Generalized hirsutism, Anonychia, Hypoparathyroidism ORPHA:1563
Moynahan Syndrome
Cachexia, Alopecia, Sparse hair ORPHA:2574
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Arrhythmia, Osteoarthritis, Hepatomegaly OMIM:606069
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis... OMIM:615505
Congenital Myopathy 14
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic card... OMIM:252011
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia ORPHA:1865
Tularemia
Pneumonia, Respiratory distress, Pleural effusion, Conjunctival hyperemia, Conjunctivitis ORPHA:3392
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Increased circulating interle... OMIM:301074
Microphthalmia, Isolated 8
Short palpebral fissure, Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthal... OMIM:615113
Agel Amyloidosis
Cataract, Tongue atrophy, Xerostomia, Cardiomyopathy, Bilateral ptosis, Blepharochalasis, Nail dy... ORPHA:85448
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Cerebrooculonasal Syndrome
Narrow palate, Sparse eyebrow, Anophthalmia, Sparse eyelashes, Epicanthus, Ptosis, High palate, I... OMIM:605627
Cirrhotic Cardiomyopathy
Conjunctival icterus, Congestive heart failure, Elevated pulmonary artery pressure, Ventricular a... ORPHA:57777
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Microcornea, Cholelithiasis, Sparse eyebrow, Recurrent pneumonia, Downslante... ORPHA:464738
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Cryptorchidism... OMIM:309000
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Umbilical hernia, Astigmatism, Low anterior hairline, Generalized hirsutism, Upper e... ORPHA:2095
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Microglossia, Exaggerated median tongue furrow, Small nail, Thin eyebrow... OMIM:608670
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Cataract, Microcornea, Short palpebral fissure, Fine hair, Downslanted palpebral fis... OMIM:257850
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Cataract, Hypertrophic cardiomyopathy OMIM:617228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Optic atrophy, Dilated cardiomyopathy, Transposition of the great arteries, Atrial sept... OMIM:253800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Death in childhood, Death in infancy, Cardiomegaly, Pulmonary arterial hypertensi... OMIM:619064
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Unilateral narrow palpebral fissure, Ectopia pupillae, Astigmatism, Scar... OMIM:618727
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent sinusitis, Hypertriglyceridemia, Colitis,... OMIM:613101
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory failure, Respiratory insufficiency OMIM:614399
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Trisomy 18
Cataract, Microcornea, Narrow palate, Cyclopia, Camptodactyly of finger, Cryptorchidism, Abnormal... ORPHA:3380
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Sparse pubic hair, Microcornea, Telecanthus, Ptosis, Blepharophimosis, Nar... OMIM:110100
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Ptosis, Pulmonic stenosis, Downslanted palpebral fissures ORPHA:638
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Fraser Syndrome 1
Lacrimal duct aplasia, Small nail, Bilateral microphthalmos, Abnormal heart morphology, Cryptopht... OMIM:219000
Kahrizi Syndrome
Cataract, Iris coloboma, Knee flexion contracture, Elbow contracture OMIM:612713
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Abcd Syndrome
Polycythemia OMIM:600501
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Corneal opacity ORPHA:79292
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Epicanthus, Atrial septal defec... OMIM:601808
3C Syndrome
Aortic valve stenosis, Chorioretinal coloboma, Abnormal mitral valve morphology, Ventricular sept... ORPHA:7
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Prune1-Related Neurological Syndrome
Cataract, Optic atrophy, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Retinopathy ORPHA:544469
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Low anterior hairline, E... OMIM:612946
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Lymphatic Malformation 12
Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren... OMIM:620014
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Downslanted palpebral fis... OMIM:300280
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Abnormality of tumor necrosis factor secretion, Increased circulating interferon... ORPHA:540
Global Developmental Delay With Or Without Impaired Intellectual Development
Long palpebral fissure, Pulmonary sequestration OMIM:618330
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Frontoocular Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis, Atria... OMIM:605321
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Absent eyelashes, Absent eyebrow, Atrial septal defect, Erythroderma, Recurrent s... OMIM:308205
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Camptodactyly of finger, Megalocornea ORPHA:2741
10Q22.3Q23.3 Microdeletion Syndrome
Downslanted palpebral fissures, Atrioventricular canal defect, Upslanted palpebral fissure, Tricu... ORPHA:276413
Microcephaly-Micromelia Syndrome
Neonatal death, Short palpebral fissure, Pulmonary hypoplasia OMIM:251230
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Scimitar Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormal heart morphology... ORPHA:185
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Tetralogy of Fallot, Atrial septal defect, Narrow palpebral fissure, Hi... OMIM:619869
De Barsy Syndrome
Cataract, Abnormal fundus fluorescein angiography, Downslanted palpebral fissures, Umbilical hern... ORPHA:2962
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Phace Association
Optic atrophy, Lingual thyroid, Ventricular septal defect, Horner syndrome, Developmental catarac... OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Microphthalmia, Macular atrophy, Abnormality of retinal pigme... ORPHA:85167
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Telecanthus, White forelock,... OMIM:619947
Joubert Syndrome 21
Apnea, Ptosis, Dyspnea, Respiratory failure, Pulmonary hypoplasia OMIM:615636
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Pulmonary edema, Tachypnea, Respiratory failure, Hypoxemia ORPHA:542323
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... OMIM:614700
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Bifid uvula, Cryptorchidism, Anophthalmia, Submucous cleft hard palate, Inguinal hernia... ORPHA:2250
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Anal atresia ORPHA:2310
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly ORPHA:79238
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Short palpebral fissure, Highly arched eyebrow, Downslanted palpebral fissures, Upslant... OMIM:620157
Marden-Walker Syndrome
Epicanthus, Ptosis, Blepharophimosis, Pulmonary hypoplasia OMIM:248700
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Frontofacionasal Dysplasia
Cataract, Microcornea, Ankyloblepharon, Bifid uvula, Telecanthus, Absent inner eyelashes, Eyelid ... OMIM:229400
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... OMIM:618426
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Pterygium, Mitral valve prolapse, Ventricular septal defect, Polycystic o... ORPHA:371428
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Pulmonic stenosis OMIM:264140
Frontorhiny
Cataract, Camptodactyly of finger, Hypopituitarism, Pericallosal lipoma, Epicanthus, Ptosis, Micr... ORPHA:391474
Renpenning Syndrome
High, narrow palate, Cataract, Alopecia, Abnormal hairshaft morphology, Decreased testicular size... ORPHA:3242
Trisomy 17P
Aortic valve stenosis, Cataract, Hypoplastic left heart, High anterior hairline, Downslanted palp... ORPHA:261290
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen... OMIM:139090
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Kagami-Ogata Syndrome
Short palpebral fissure, Blepharophimosis, Pulmonary hypoplasia OMIM:608149
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea, Gastrointestinal hemorrhage, Recurrent pneumonia, Downslanted palpebral... OMIM:225400
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Grayish enamel, Mitral regurgitation, Inguinal hernia, Corneal opacity, He... OMIM:253010
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Clinodactyly of the 5th finger, Clinodactyly, Synophrys OMIM:300997
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:98914
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:590
Emanuel Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Intestinal malrotation, Recurrent otitis media, A... OMIM:609029
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Dilated cardiomyopathy, Camptodactyly of finger, Retinal dysplasia, Flex... ORPHA:272
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Ritscher-Schinzel Syndrome 4
Narrow palate, Downslanted palpebral fissures, Cryptorchidism, Curly hair, High palate, Dysphagia OMIM:619435
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Phenylketonuria
Fair hair, Cataract, Eczematoid dermatitis, Blue irides OMIM:261600
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
8Q12 Microduplication Syndrome
Highly arched eyebrow, Gastroesophageal reflux, Telecanthus, Ventricular septal defect, Epicanthu... ORPHA:228399
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Psoriasif... OMIM:243150
Chromosome 1Q41-Q42 Deletion Syndrome
Downslanted palpebral fissures, Sparse eyebrow, Upslanted palpebral fissure, Pulmonary hypoplasia OMIM:612530
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... OMIM:618042
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Ptosis, Exertional dyspnea, Orthopnea, Respiratory failure ORPHA:98913
Cerebrooculonasal Syndrome
Sparse eyebrow, Upslanted palpebral fissure, Anophthalmia, Sparse eyelashes, Epicanthus, High palate ORPHA:66625
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Ptosis, Hypertrophic cardiomyopathy OMIM:615917
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Optic disc coloboma, Downslanted palpebral fissures, Abnormal hair morph... ORPHA:251014
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ... OMIM:601399
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Rec... OMIM:608940
Charge Syndrome
Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, Overriding ao... OMIM:214800
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Hypoplastic nipple... OMIM:156610
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Isolated Atp Synthase Deficiency
Cataract, Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia, Ptosis,... ORPHA:254913
Undifferentiated Pleomorphic Sarcoma
Weight loss, Anorexia ORPHA:2023
Bresek Syndrome
Alopecia, Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Microphthalmia, Iris ... ORPHA:85284
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Scheie Syndrome
Aortic regurgitation, Splenomegaly, Corneal opacity, Hepatomegaly, Rhinitis ORPHA:93474
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Cardiomyopathy, Arrhythmia, Ptosis, Bradycardia, Dysphagia OMIM:609286
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... ORPHA:436159
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Ileal atresia, Ptosis, Joint contracture, Prolonged QT interval OMIM:615351
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Abnormal heart morphology, Tetralogy... ORPHA:1686
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cataract, Short palpebral fissure, Cardiomyopathy, Downslanted palpebral fissures, Hypertrichosis... ORPHA:480880
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Acrocephalopolydactylous Dysplasia
Epicanthus, Extrapulmonary lobar sequestration, Upslanted palpebral fissure, Pulmonary hypoplasia OMIM:200995
Donnai-Barrow Syndrome
Cataract, Downslanted palpebral fissures, Hypoplasia of the iris, Intestinal malrotation, Umbilic... OMIM:222448
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly,... OMIM:252920
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Microglossia, Small nail, Thin eyebrow, Telecanthus, Corneal opacity, Mi... ORPHA:364577
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Psoriasiform dermatitis, Recurrent skin infections,... OMIM:615508
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczematoid dermatitis, Obesity, Telecanthus, Cryptorchidism, Aplasia/Hypoplasia of the testes ORPHA:3055
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe... OMIM:619433
Renal Agenesis, Bilateral
Epicanthus, Pulmonary hypoplasia ORPHA:1848
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia OMIM:619879
Sézary Syndrome
Alopecia, Nail dystrophy, Splenomegaly, Hepatomegaly, Erythroderma, Ectropion, Pruritus ORPHA:3162
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Cataract, Dysphagia OMIM:608810
Tangier Disease
Coronary artery stenosis, Hepatosplenomegaly, Nail dystrophy, Left ventricular hypertrophy, Corne... ORPHA:31150
Faciocardiorenal Syndrome
Tricuspid valve prolapse, Endocardial fibroelastosis ORPHA:1973
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Neuroocular Syndrome 1
Hooded upper eyelid, Small nail, Ankyloglossia, Hypoplasia of the fovea, Brittle hair, Microphtha... OMIM:619539
Netherton Syndrome
Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa,... ORPHA:634
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Cataract, Optic atrophy, Hypoplastic fingernail, Hypoplastic toenails, Low anterior hairline, Ven... OMIM:220500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia OMIM:608013
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure ORPHA:3226
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Downslanted palpebral fissures, Ventricular septal defect, Hernia, Epicanthus, Microphthalmia OMIM:602501
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Abnormal lung lobation, Death in infancy, Aplasia/Hypoplasia of the lu... ORPHA:1120
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect ORPHA:2772
Biotinidase Deficiency
Optic atrophy, Alopecia, Splenomegaly, Skin rash, Seborrheic dermatitis, Hepatomegaly, Conjunctiv... OMIM:253260
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Infantile Refsum Disease
Cataract, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Hepatomegaly ORPHA:772
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Long eyelashes, Curly eyelashes, Card... OMIM:239850
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Tele... ORPHA:894
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Short palpebral fissure, Optic disc hypoplasia, Chorioretinal coloboma, Op... ORPHA:959
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Finger joint contracture, Shoul... OMIM:252605
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Galactosialidosis
Visceromegaly, Cherry red spot of the macula, Hepatosplenomegaly, Conjunctival telangiectasia, Op... OMIM:256540
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Con... ORPHA:420741
Micro Syndrome
Cataract, Microcornea, Optic atrophy, Retinal coloboma, Cryptorchidism, Abnormality of retinal pi... ORPHA:2510
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Ectropion, Flexion contracture, Sparse hair OMIM:242300
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Epicanthus, Brady... OMIM:616276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Congenital contracture, Megalocornea, Cryptorchidism, Re... OMIM:236670
Microphthalmia, Syndromic 1
High, narrow palate, Microcornea, Joint contracture of the hand, Chorioretinal coloboma, Optic di... OMIM:309800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Retinal degeneration, Coloboma, Microphthalmia, Flexion contrac... OMIM:615249
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Scalp-Ear-Nipple Syndrome
Epicanthus, Multiple lipomas, Blepharophimosis, Narrow palpebral fissure, Sparse hair, Iris colob... OMIM:181270
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Curry-Jones Syndrome
Optic disc coloboma, Intestinal malrotation, Generalized hirsutism, Microphthalmia, Iris coloboma ORPHA:1553
Anencephaly 2
Short palpebral fissure, Median cleft palate, Anophthalmia OMIM:619452
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panhypogammaglobulinem... OMIM:209920
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 47
Cataract, Cryptorchidism, Ptosis, Hepatomegaly, Dysphagia OMIM:618958
Pontocerebellar Hypoplasia, Type 16
Cataract, Ptosis, Optic atrophy, Dysphagia OMIM:619527
Yao Syndrome
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Ke... OMIM:617321
Sengers Syndrome
Cataract, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Developmental cataract, C... OMIM:212350
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Decreased response to growth hormone stimulation test, Thick eyebrow, Achalasia, Develo... ORPHA:436174
Laurence-Moon Syndrome
Cataract, Iris coloboma, Cryptorchidism, Epicanthus ORPHA:2377
Charge Syndrome
Chorioretinal coloboma, Cryptorchidism, Anophthalmia, Epicanthus, Microphthalmia, Dysphagia, Iris... ORPHA:138
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Respiratory distress, Death in childhood, Death in infancy, Respiratory failure OMIM:620278
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Costello Syndrome
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Fragile nails, Concave nail, Mitral ... OMIM:218040
Senior-Loken Syndrome
Cataract, Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cherry red spot of the macula OMIM:230650
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Alopecia, Diarrhea, Xerostomia, Hematochezia, Vomiting, Hypomagnesemi... OMIM:175500
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Alopecia, Annular pancreas, Sparse eyebrow, Anteriorly placed anus, Premat... OMIM:268400
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Respiratory insufficiency, Recurrent sinusitis, Bronchiectasis OMIM:618695
Stickler Syndrome, Type Iv
Cataract, Astigmatism, Epicanthus, Chorioretinal degeneration, Rhegmatogenous retinal detachment,... OMIM:614134
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, White forelock, Abnormality ... ORPHA:897
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
3Mc Syndrome 3
Highly arched eyebrow, Cryptorchidism, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inve... OMIM:248340
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Aplasia/Hypoplasia of the eyebrow, Pulmonary hypoplasia OMIM:614091
Czeizel-Losonci Syndrome
Upslanted palpebral fissure, Pulmonary hypoplasia ORPHA:2437
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Hernia, Sinusitis, Macroglossia, Opacification of ... ORPHA:583
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal hair morphology, Epic... ORPHA:1571
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Respiratory insufficiency, Chronic bronchitis, Respiratory insufficiency due to ... OMIM:616037
Rhizomelic Chondrodysplasia Punctata
Cataract, Alopecia, Epicanthus, Sparse body hair ORPHA:177
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Ptosis, Respiratory failure ORPHA:98905
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Bartsocas-Papas Syndrome 1
Small nail, Alopecia totalis, Absent eyelashes, Cicatricial lagophthalmos, Absent eyebrow, Blepha... OMIM:263650
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, High palate, Arthrogryposis multiplex congenita, Clef... OMIM:615731
Atelosteogenesis Type I
Telecanthus, Pulmonary hypoplasia ORPHA:1190
Mucopolysaccharidosis, Type Vi
Pneumonia, Macroglossia, Sinus tachycardia, Cardiomyopathy, Umbilical hernia, Tricuspid regurgita... OMIM:253200
Supravalvular Aortic Stenosis
Pulmonic stenosis OMIM:185500
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Microphthalmia With Limb Anomalies
Short palpebral fissure, Camptodactyly of 2nd-5th fingers, Downslanted palpebral fissures, Unilat... OMIM:206920
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Sparse eyebrow, Camptodactyly of finger, Tetralogy of Fallot, Eyelid coloboma, Pericall... ORPHA:306542
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Bicuspid aortic v... ORPHA:363705
Intellectual Developmental Disorder, Autosomal Recessive 73
Epicanthus, Downslanted palpebral fissures, Ventricular septal defect OMIM:619717
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Abnormal dental enamel morphology, Grayish enamel, Hernia, Corne... ORPHA:582
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Cerebellofaciodental Syndrome
Cataract, Sparse eyebrow, Fine hair, Cryptorchidism, Mitral valve prolapse, Ventricular septal de... OMIM:616202
Carpenter Syndrome 1
Optic atrophy, Microcornea, Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot,... OMIM:201000
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema ORPHA:2038
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Lens subluxation, Pulmonic s... OMIM:609008
Reticular Dysgenesis
Diarrhea, Failure to thrive, Malabsorption, Skin rash, Weight loss, Decreased circulating antibod... ORPHA:33355
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Narrow palpebral fissure ORPHA:3426
Srd5A3-Cdg
Cataract, Optic atrophy, Optic disc hypoplasia, Hypertrichosis, Decreased response to growth horm... ORPHA:324737
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Dubowitz Syndrome
Short palpebral fissure, Gastroesophageal reflux, Sparse lateral eyebrow, Velopharyngeal insuffic... OMIM:223370
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Ptosis, Testicular atrophy, Dysp... OMIM:222300
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature grayi... OMIM:300845
Sweet Syndrome
Abnormal circulating interleukin concentration, Dilated cardiomyopathy, Inflammation of the large... ORPHA:3243
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Eyelid coloboma, Hypoplastic toenails, Ventricular septal defect, Congeni... ORPHA:268249
Microphthalmia, Lenz Type
Cataract, Microcornea, Ankyloblepharon, Chorioretinal coloboma, Optic disc coloboma, Camptodactyl... ORPHA:568
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Intestinal malrotation, Jejun... OMIM:243605
Lessel-Kreienkamp Syndrome
Upslanted palpebral fissure, Patent foramen ovale, Bicuspid aortic valve, Epicanthus, Atrial sept... OMIM:619149
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev... ORPHA:90368
Acro-Renal-Mandibular Syndrome
Downslanted palpebral fissures, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H... ORPHA:99095
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Cataract, Microspherophakia, Ectopia lentis, Mitral regurgitation, Ventric... OMIM:277600
1Q21.1 Microdeletion Syndrome
Cataract, Ankyloglossia, Cryptorchidism, Inguinal hernia, Epicanthus, Abnormal cardiac septum mor... ORPHA:250989
Mend Syndrome
Aortic valve stenosis, Cataract, Abnormal heart morphology, Telecanthus, Cryptorchidism, Upslante... ORPHA:401973
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Radio-Renal Syndrome
Chylothorax, Respiratory distress, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Ifap Syndrome 2
Cataract, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoco... OMIM:619016
Ichthyosis, X-Linked
Opacification of the corneal stroma, Cryptorchidism, Testicular neoplasm OMIM:308100
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Weiss-Kruszka Syndrome
Highly arched eyebrow, Horizontal crus of helix, Downslanted palpebral fissures, Dextrotransposit... OMIM:618619
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Cataract, Enterocolitis, Decreased pineal volume OMIM:301108
Lacrimoauriculodentodigital Syndrome
Xerostomia, Limbal stem cell deficiency, Cryptorchidism, Keratoconjunctivitis, Abnormal lacrimal ... ORPHA:2363
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Abnormal hair morphology, Chorioretinal atrophy, Subcapsul... ORPHA:414
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Downslanted palpebral fissures, Obesity, Mitral valve prolapse, Low posterior hairline, Abnormal ... ORPHA:2233
Oculocerebrofacial Syndrome, Kaufman Type
Short palpebral fissure, Respiratory distress, Thin eyebrow, Telecanthus, Upslanted palpebral fis... ORPHA:2707
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Premature graying of hair, Dys... OMIM:614742
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Arrhythmia, Hepatomegaly, Abnormal heart morphology, Flexion co... ORPHA:580
Microcephalic Primordial Dwarfism, Toriello Type
Cataract, Enamel hypoplasia, Downslanted palpebral fissures ORPHA:2643
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurrent skin in... ORPHA:346
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Astigmatism, Retinal detachment, Cleft palate ORPHA:250984
Warburg Micro Syndrome 2
Cataract, Microcornea, Optic atrophy, Cryptorchidism, Low anterior hairline, Developmental catara... OMIM:614225
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Duane-Radial Ray Syndrome
Cataract, Anal stenosis, Optic disc hypoplasia, Retinal coloboma, Ventricular septal defect, Epic... OMIM:607323
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Dilated cardiomyopathy, Gastroesophageal reflux, Anal fissure, Esophag... ORPHA:89842
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy... ORPHA:3348
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Sparse lateral eyebrow, Downslanted palpebral fissures, Almond-shaped palpebral fissure, Ventricu... OMIM:619103
Cockayne Syndrome Type 3
Lentiglobus, Dry hair, Premature graying of hair, Microphthalmia, Hepatomegaly, Optic disc pallor... ORPHA:90324
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Lamellar Ichthyosis
Erythroderma, Aplasia/Hypoplasia of the eyebrow, Ectropion, Pruritus, Chronic otitis media, Spars... ORPHA:313
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Ectopia lentis, Mitral valve prolapse, Retinal detachment, High palate, Shallo... OMIM:129600
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... OMIM:616069
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Cryptorchidism, Hip contracture, V... OMIM:619503
Blau Syndrome
Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Eczematoid dermatitis, Flexion con... OMIM:186580
Congenital Tracheal Stenosis
Neonatal asphyxia, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmona... ORPHA:141127
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Megalocornea, Cryptorchidism, Atrial septal defect, Iris coloboma, Optic d... ORPHA:536471
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus, Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Donnai-Barrow Syndrome
Umbilical hernia, Intestinal malrotation, Downslanted palpebral fissures, Congenital diaphragmati... ORPHA:2143
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Optic nerve hypoplasia, Gastroesophageal reflux, Anteriorly placed anus, Long eye... ORPHA:495875
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Acalvaria
Abnormal lung lobation ORPHA:945
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cataract, Ventricular hypertrophy, Short palpebral fissure, Sparse eyebrow, Downslanted palpebral... OMIM:620654
Neonatal Adrenoleukodystrophy
Cataract, Ptosis, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Immunodeficiency 27A
Hypoalbuminemia, Pneumonia, Diarrhea, Increased inflammatory response, Salmonella osteomyelitis, ... OMIM:209950
Leigh Syndrome, Nuclear
Ptosis, Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Giant Axonal Neuropathy 1, Autosomal Recessive
Vomiting, Curly hair OMIM:256850
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:224100
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constricti... ORPHA:67
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Acrofrontofacionasal Dysostosis 1
Optic atrophy, S-shaped palpebral fissures, Small nail, Long eyelashes, Iris atrophy, Ptosis, Mic... OMIM:201180
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Decreased circulating antibody level, Nail dystrophy, Esophageal stenosis OMIM:615190
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... OMIM:616809
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Epicanthus, Recurr... OMIM:619383
14Q24.1Q24.3 Microdeletion Syndrome
Downslanted palpebral fissures, Abnormal heart morphology, Intestinal malrotation, Truncus arteri... ORPHA:401935
Mosaic Trisomy 1
Hypoplastic thumbnail, Small nail, Downslanted palpebral fissures, Camptodactyly of finger, Conge... ORPHA:1692
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Dislocation Of The Hip-Dysmorphism Syndrome
Epicanthus, Abnormal tricuspid valve morphology, Abnormal cardiac septum morphology ORPHA:2412
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Recurrent viral upper respiratory tract infections, Ventricular septal def... OMIM:616898
Fibular Hemimelia
Abnormal heart morphology, Abnormal anterior chamber morphology, Anophthalmia ORPHA:93323
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Bicuspid aortic va... OMIM:617744
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Tiger tail banding, Slow-growing hair, Brittle hair OMIM:616943
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism, Inguinal hernia, Ptosis ORPHA:1069
Hallermann-Streiff Syndrome
High, narrow palate, Alopecia, Sparse eyebrow, Sparse body hair, Congestive heart failure, Teleca... ORPHA:2108
Triploidy
Cataract, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal cardiac septum morpholog... ORPHA:3376
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Astigmatism, Patent foramen ovale, Ventric... OMIM:609053
Carvajal Syndrome
Woolly hair ORPHA:65282
Bifid Nose With Or Without Anorectal And Renal Anomalies
Thick eyebrow, Ebstein anomaly of the tricuspid valve OMIM:608980
Bathing Suit Ichthyosis
Alopecia, Nail dystrophy, Multiple joint contractures, Erythroderma, Ectropion, Sparse hair ORPHA:100976
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Hypoplastic toenails, Ventricular septal defect, Ectopic anus, Cleft palate ORPHA:94066
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Ptosis, Dyspnea, Respiratory failure, Hypercapnia, Respir... ORPHA:79138
Eales Disease
Epistaxis, Macular edema, Anterior uveitis, Rubeosis iridis, Retinal thinning, Peripheral retinal... ORPHA:40923
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Bifid uvula, Downslanted palpebral fissures, Abnormal heart morphology, Bi... ORPHA:404440
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Retinopathy, Inguinal hernia, A... ORPHA:217085
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cataract, Highly arched eyebrow, Long eyelashes, Frontal upsweep of hair, Synophrys OMIM:619286
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Chylothorax, Congestive heart failure, Abnormal heart morphology, L... ORPHA:137667
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Eczematoid dermatitis, Brea... ORPHA:464306
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy OMIM:614879
Nanophthalmos 2
Microphthalmia OMIM:609549
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira... ORPHA:980
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Relapsing Polychondritis
Cataract, Alopecia, Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Large vessel vasculiti... ORPHA:728
Multicentric Reticulohistiocytosis
Cachexia, Arthritis ORPHA:139436
Inflammatory Pseudotumor Of The Liver
Vomiting, Increased hepatitis B virus antibody level, Nausea, Neoplasm of the liver, Weight loss,... ORPHA:90003
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Neonatal respiratory distress, Intercrural pterygium, Popliteal pterygium, Do... OMIM:265000
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Atypical scarring of skin, Periodontitis, Camptod... ORPHA:2908
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Respiratory failure OMIM:312170
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Splenomegaly ORPHA:100025
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:617022
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Bilateral ptosis,... ORPHA:98915
Moebius Syndrome
Arthrogryposis multiplex congenita, Aplasia/Hypoplasia of the tongue, Breast aplasia, Epicanthus,... ORPHA:570
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Chronic mucocutaneous candidiasis, Abnormal fingernail morphology, Adrenal hy... ORPHA:3453
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Omenn Syndrome
Pneumonia, Alopecia, Splenomegaly, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly,... ORPHA:39041
Zimmermann-Laband Syndrome
Cataract, Facial hypertrichosis, Bifid uvula, Downslanted palpebral fissures, Hypoplastic fingern... ORPHA:3473
Codas Syndrome
Cataract, Abnormal dental enamel morphology, Ventricular septal defect, Epicanthus, Ptosis ORPHA:1458
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Increased circul... ORPHA:90280
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Papillorenal Syndrome
Cataract, Macular degeneration, Optic disc coloboma, Retinal coloboma, Morning glory anomaly, Cho... OMIM:120330
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Ptosis, Macular degeneration, Tortuosity of conjunctival vessels ORPHA:284289
Hypocomplementemic Urticarial Vasculitis
Uveitis, Abnormal heart valve morphology, Episcleritis, Splenomegaly, Skin rash, Hepatomegaly, In... ORPHA:36412
Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Abno... ORPHA:2717
Emanuel Syndrome
Aortic valve stenosis, Recurrent otitis media, Congenital diaphragmatic hernia, Cryptorchidism, V... ORPHA:96170
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Retinopathy, Inguinal hernia, A... ORPHA:217093
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Abnormal esophagus morph... ORPHA:1163
Short Stature-Micrognathia Syndrome
Cataract, Gastroesophageal reflux, Downslanted palpebral fissures, Astigmatism, Cryptorchidism, V... OMIM:617164
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Gastroesophageal reflux, Upslanted palpebral fissure, Epicanthus, Hepatomegaly, High pa... OMIM:607906
Cerebellar-Facial-Dental Syndrome
Cataract, Sparse eyebrow, Foot joint contracture, Fine hair, Abnormal T-wave, Cryptorchidism, Mit... ORPHA:444072
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Downslanted palpebral fissures, Death in childhood, Death in infancy, Ventricular... OMIM:616901
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Hypoventilation, Recurrent infections due to aspiration, Intercost... ORPHA:70
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Legius Syndrome
Supravalvar pulmonary stenosis, Ptosis, Epicanthus, Downslanted palpebral fissures OMIM:611431
Zttk Syndrome
Aortic regurgitation, Optic atrophy, Sparse eyebrow, Bifid uvula, Downslanted palpebral fissures,... OMIM:617140
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Downslanted palpebral fissures, Respiratory distress, Pleural effusion, Syn... OMIM:620369
Lymphedema-Distichiasis Syndrome
Cataract, Distichiasis, Ptosis, Arrhythmia, Ectropion, Conjunctivitis, Recurrent skin infections,... ORPHA:33001
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia ORPHA:178029
Ichthyosis With Confetti
Hypertrichosis, Hypoplastic nipples, Erythroderma, Ectropion, Pruritus OMIM:609165
Branchiooculofacial Syndrome
Supernumerary nipple, Premature graying of hair, White forelock, Cryptorchidism, Anophthalmia, Lo... OMIM:113620
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis ORPHA:210136
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Ptosis, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Astigmatism, Cryptorchidism, Intestinal obstruction, Congenita... ORPHA:2323
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Glomerulonephritis, Recurrent skin infections, Dysphagia, Al... ORPHA:90291
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism ORPHA:90023
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin, Nail dystrophy, Alopecia totalis ORPHA:1366
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Achondroplasia
Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:100800
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Cataract, Enterocolitis OMIM:620425
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
X-Linked Agammaglobulinemia
Alopecia, Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Hypoca... ORPHA:47
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Downslanted palpebral fissures, ... OMIM:616651
Alagille Syndrome 2
Tetralogy of Fallot, Posterior embryotoxon, Atrial septal defect, Hypertension, Pulmonic stenosis OMIM:610205
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cataract, Microcornea, Cryptorchidism, Microphthalmia, Anal atresia, Septo-optic d... ORPHA:3301
Joubert Syndrome 14
Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ventricular septal defect, ... OMIM:614424
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Supernumerary nipple, Umbilical hernia, Cryptorchidism, Patent foramen ov... OMIM:613884
Jaberi-Elahi Syndrome
Cataract, Sparse eyebrow, Optic atrophy, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Cataract, Allergic rhinitis, Allergic conjunctivitis, Bicuspid aortic valv... OMIM:176690
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Upslanted palpebral fissure, Death in childhood, Epicanthus, Prolo... OMIM:214100
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Oculoectodermal Syndrome
Microcornea, Supernumerary nipple, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigm... OMIM:600268
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ... OMIM:618494
Mowat-Wilson Syndrome
Chorioretinal coloboma, Ectopia pupillae, Supernumerary nipple, Recurrent otitis media, Cryptorch... OMIM:235730
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Optic neurop... OMIM:105120
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Peripheral opacification ... OMIM:259600
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Increased circulating ferritin ... OMIM:619802
Hemochromatosis, Type 1
Alopecia, Cardiomyopathy, Congestive heart failure, Pleural effusion, Splenomegaly, Cardiomegaly,... OMIM:235200
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Dyspnea, Hypersensitivity pneumon... ORPHA:2902
Hallermann-Streiff Syndrome
High, narrow palate, Cataract, Sparse eyebrow, Narrow palate, Recurrent pneumonia, Fine hair, Dow... OMIM:234100
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... OMIM:620067
Stickler Syndrome, Type I
Cataract, Bifid uvula, Vitreoretinopathy, Mitral valve prolapse, Submucous cleft hard palate, Mem... OMIM:108300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Achilles tendon contracture,... OMIM:615418
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Alopecia totalis, Ank... ORPHA:740
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Opacification of the corneal stroma OMIM:215250
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Keratoconus, Epistaxis, Gastroesophageal reflux, Atypical scarring of skin, ... ORPHA:285
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Cataract, Microspherophakia, Narrow palate, Ectopia lentis, Congestive hea... OMIM:608328
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis ORPHA:729
Focal Dermal Hypoplasia
Chorioretinal coloboma, Supernumerary nipple, Absent toenail, Cryptorchidism, Anophthalmia, Conge... OMIM:305600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal heart morphology, Downslanted palpebral fissures, Astigmatism, Pat... ORPHA:457279
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Eyelid coloboma, Bicuspid aortic valve, ... OMIM:614900
Gomez-Lopez-Hernandez Syndrome
Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, ... OMIM:601853
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Sparse eyebrow, Atypical scarring of skin, Atrophic scars, Telecanthus, Cr... ORPHA:75496
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Distal Triplication 15Q
Telecanthus, Pulmonary hypoplasia ORPHA:314588
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness OMIM:613561
Premature Aging Syndrome, Penttinen Type
Keloids, Corneal stromal edema, Flexion contracture of finger, Hypermyelinated retinal nerve fibe... OMIM:601812
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Abnormality of retinal pigmentation, Ventricular sep... ORPHA:2515
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Farber Disease
Macular degeneration, Cherry red spot of the macula, Hepatosplenomegaly, Arthritis, Corneal opaci... ORPHA:333
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis OMIM:300988
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatosplenomegaly, Splenomeg... ORPHA:2072
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Palpebral thickening, Downslanted palpebral fissures, Thick eyebrow, Paten... OMIM:618950
Renpenning Syndrome 1
Cataract, Joint contracture of the hand, Sparse lateral eyebrow, Tetralogy of Fallot, Decreased t... OMIM:309500
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatit... ORPHA:477
Esophageal Atresia
Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Coloboma, Recurrent re... ORPHA:1199
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Patent foramen ovale, Bicu... OMIM:615009
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Impaired collagen-induced pla... OMIM:187900
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Tarp Syndrome
Short palpebral fissure, Apnea, Thick eyebrow, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Acrodermatitis Enteropathica
Alopecia, Abnormality of the nail, Ridged fingernail, Abnormal eyebrow morphology, Furrowed tongu... ORPHA:37
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Gastroesophageal reflux, ... ORPHA:464311
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Downslanted palpebral fissures, Tetralogy of Fallo... OMIM:220210
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Glutamine Deficiency, Congenital
Erythema, Neonatal respiratory distress, Apnea, Neonatal death, Recurrent respiratory infections OMIM:610015
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cataract, Aplasia/Hypoplasia of the nails, Leukocoria, Retinal detachment, R... ORPHA:2714
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Coarse hair, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa, Furrow... OMIM:301845
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Microcornea, Microglossia, Bilateral microphthalmos, Retinal coloboma, C... ORPHA:2839
Recessive Dystrophic Epidermolysis Bullosa Inversa
Atrophic scars, Corneal erosion, Nail dystrophy, Anonychia, Gastrointestinal inflammation, Esopha... ORPHA:79409
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Branchio-Oculo-Facial Syndrome
Cataract, Microcornea, Atypical scarring of skin, Premature graying of hair, Fingernail dysplasia... ORPHA:1297
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Abnormal hea... ORPHA:500159
Pseudo-Torch Syndrome 1
Cataract, Umbilical hernia, Splenomegaly, Patent foramen ovale, Hepatomegaly, High palate, Opacif... OMIM:251290
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Thrombocytopenia-Absent Radius Syndrome
Cataract, Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenome... OMIM:274000
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Ventricular septal defect, Low anterior... OMIM:615102
Martsolf Syndrome 2
Camptodactyly, Cataract, Developmental cataract, Camptodactyly of finger OMIM:619420
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:93274
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Atrial septal defect, Microphthalmia, Cleft palate, Synophrys ORPHA:261272
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal hair morphology, Cryptorchidism, Abnormal nasolacrimal system morphology, Scleritis, Abs... ORPHA:2273
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Hypotension, Macroglossia, Cardiomyopathy, Congestive heart failure, Biventricular hype... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... ORPHA:90308
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Respiratory insufficiency, Premature skin wrinkling, Apnea, Death in inf... OMIM:601559
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract ORPHA:570422
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Highly arched eyebrow, Gastroesophageal reflux, Umbilical hernia, Downslanted palpebral fissures,... ORPHA:329224
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Recurrent respiratory infections, Premature graying of hair, Genera... ORPHA:33445
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Absenc... ORPHA:1600
Familial Dysautonomia
Optic atrophy, Gastroesophageal reflux, Abnormal pupil morphology, Heterochromia iridis, Orthosta... ORPHA:1764
Neuhauser Syndrome
Bifid uvula, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Low anterior h... OMIM:249310
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Poems Syndrome
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega... ORPHA:2905
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, ... ORPHA:33110
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, High anterior hairline, Optic atrophy, Megalocornea, Abnormal heart valve ... ORPHA:280
Multiple Sulfatase Deficiency
Hepatomegaly, Retinal degeneration, Splenomegaly, Corneal opacity OMIM:272200
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... OMIM:614878
Mucolipidosis Ii Alpha/Beta
Megalocornea, Recurrent otitis media, Mitral regurgitation, Epicanthus, Brittle hair, Hepatomegal... OMIM:252500
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Dyspnea, Pulmonary fibrosis, Hypoxemia, Respirator... ORPHA:90060
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Secundum atrial septal defect, Gas... OMIM:600987
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Recurrent ot... OMIM:617751
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Rheumatoid arthritis, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Arthritis,... ORPHA:85410
Digeorge Syndrome
Recurrent otitis media, Ovarian cyst, Ventricular septal defect, Posterior embryotoxon, Blepharop... OMIM:188400
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Respiratory failure OMIM:620249
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Retinopathy, Inguinal hernia, Retinal degeneration, Severel... OMIM:252600
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Abnormal dental enamel morphology ORPHA:231169
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... OMIM:600059
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the op... ORPHA:137634
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Fine hair, Elbow flexion contracture, Cryptorchidism, Inguinal hernia, Narrow palpebral... OMIM:614438
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Geographic... OMIM:619260
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardio... ORPHA:70472
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Oral-pharyngeal dysphagia, Astigmatism, Patent foramen ovale, Arrhythmia, Enamel hypoplasia, Atri... OMIM:619184
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Ventricular septal defect, Generalized hirsutism, Hernia, H... ORPHA:955
Refractory Celiac Disease
Hypoalbuminemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Hypomagnesemia... ORPHA:398063
Muckle-Wells Syndrome
Optic atrophy, Vasculitis, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, ... ORPHA:575
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Short palpebral fissure, Hypertrichosis, Tetralogy of Fallot, Atrioventricu... ORPHA:508498
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Respiratory insufficiency, Death in infancy, Jaundice, Recurrent respiratory infections, Pulmonar... OMIM:208500
Xk Aprosencephaly Syndrome
Microphthalmia, Anal atresia, Atrial septal defect, Ventricular septal defect ORPHA:3469
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Vici Syndrome
Cataract, Dilated cardiomyopathy, Hypopigmentation of the fundus, Cardiomyopathy, Ocular albinism... OMIM:242840
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Sparse eyebrow, Stillbirth, Pulmonary hypoplasia OMIM:616300
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Retinitis Pigmentosa 89
Retinal thinning, Hepatosplenomegaly, Bicuspid aortic valve, Rod-cone dystrophy, Hyperautofluores... OMIM:618955
Wilson Disease
Hepatitis, Kayser-Fleischer ring, Acute hepatitis, Splenomegaly, Arthritis, Hepatomegaly, Pruritus ORPHA:905
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small nail, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Ventricular septal defect, ... OMIM:614866
Cystinosis
Portal hypertension, Retinopathy, Corneal opacity ORPHA:213
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Neonatal death, Epicanthus, Ptosis, Respiratory failure OMIM:618186
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Anophthalmia, Perinea... ORPHA:2538
3P25.3 Microdeletion Syndrome
High, narrow palate, Downslanted palpebral fissures, Knee flexion contracture, Ventricular septal... ORPHA:435638
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cataract, Cholelithiasis, Alopecia, Alopecia universalis, Pigmentary retinopa... OMIM:240300
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, T... ORPHA:1517
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Respiratory distress, Abnormal pulmonary inte... ORPHA:209905
Linear Iga Dermatosis
Inflammation of the large intestine, Pruritus ORPHA:46488
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Cataract 47
Cataract, Microcornea OMIM:612018
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Epicanthus OMIM:614741
Mosaic Trisomy 20
Dysplastic tricuspid valve, Upslanted palpebral fissure, Abnormal mitral valve morphology, Ventri... ORPHA:1724
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death OMIM:620203
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Congenital alopecia totalis, Absent hair, Cardiomyopathy, Absent toenail, Abse... ORPHA:158687
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Conjunctivit... ORPHA:31204
Hengel-Maroofian-Schols Syndrome
Thick eyebrow, Bicuspid aortic valve, Epicanthus, Ptosis, Synophrys OMIM:619641
Fryns Syndrome
Joint contracture of the hand, Small nail, Cryptorchidism, Ventricular septal defect, Blepharophi... OMIM:229850
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Epicanthus, Ptosis, Transposition of the great ar... ORPHA:1913
Monosomy 9Q22.3
Cataract, Downslanted palpebral fissures, Umbilical hernia, Retinopathy, Cardiac fibroma, Epicant... ORPHA:77301
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Abnormal fingernail morphology, Cryptorchidism, Hypoplastic toenails... ORPHA:2701
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Hypopigmentation of the skin, Cardi... OMIM:203300
Geleophysic Dysplasia 3
Dyspnea, Pneumonia, Respiratory failure OMIM:617809
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Ventricular sep... OMIM:617992
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Neonatal respiratory distress, Downslanted palpebral fissures, Aorto... OMIM:620025
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Death in childhood, Ventricular septal defect OMIM:613759
Curry-Jones Syndrome
High anterior hairline, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Hir... OMIM:601707
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Ectopia lentis, Broad uvula, Downslanted palpebral fissures, In... OMIM:614816
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Pruritus, Barrett esophagus, Esophageal neoplasm ORPHA:523
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Joint contracture of the hand, Small nail, Hypoplasia of the iris, Hiatu... OMIM:251300
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Neonatal respiratory distress, Sparse eyebrow, Respiratory distress, Sparse eyelashes, ... OMIM:614748
Spherocytosis, Type 4
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:612653
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Hernia, Developmental cataract, Corneal opacity OMIM:616603
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Coloboma, Corneal opacity OMIM:163200
Kury-Isidor Syndrome
Alopecia, Hypertrichosis, Downslanted palpebral fissures, Recurrent otitis media, Astigmatism, Ve... OMIM:619762
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Myelomeningocele, Abnormal eyebrow morphol... ORPHA:3440
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev... OMIM:620632
Borjeson-Forssman-Lehmann Syndrome
Cataract, Decreased testicular size, Thick eyebrow, Cryptorchidism, Camptodactyly of toe, Ptosis,... ORPHA:127
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Short-Rib Thoracic Dysplasia 12
Atelectasis, Respiratory insufficiency, Neonatal death, Epicanthus, Pulmonary hypoplasia OMIM:269860
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Short palpebral fissure, High anterior hairline, Horizontal eyebrow, Sparse ... OMIM:619950
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Infectious encephalitis, Weight loss, Arthritis, Abdominal pain ORPHA:42642
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Huntington Disease-Like 2
Weight loss ORPHA:98934
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Abnormal heart morphology, Thick eyebrow, Abnormal tricuspid valve morph... ORPHA:485405
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormally large globe, Downslanted palpebral fissures, Elbow flexion contracture, Thick eyebrow,... OMIM:245600
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Downslanted palpebral fissures, High palate, Curly hair ORPHA:85184
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Tetralogy of Fallot, Atrioventricular canal defec... OMIM:265380
Ablepharon Macrostomia Syndrome
Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Cryptophthalmos, Absent ... ORPHA:920
Peters Plus Syndrome
Hypoplastic left heart, Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Optic atr... ORPHA:709
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Optic atrophy, Cardiomyopathy, Opto-chiasmatic atrophy, Pericardial effusion, High palate OMIM:620089
Dentici-Novelli Neurodevelopmental Syndrome
Cataract, Upslanted palpebral fissure OMIM:619877
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def... OMIM:619170
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... OMIM:235700
Mucopolysaccharidosis Type 7
Hepatitis, Umbilical hernia, Inguinal hernia, Splenomegaly, Corneal opacity ORPHA:584
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Telecanthus, Long palpebral fissure, Ptosis, Coloboma, Microphthalmia OMIM:614583
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Raine Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Death in infancy, Neonatal death, Pulmonar... OMIM:259775
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Telecanthus, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid regurgita... OMIM:619167
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Myhre Syndrome
Aortic valve stenosis, Cataract, Fine hair, Thick eyebrow, Microphthalmia, Cryptorchidism, Ventri... OMIM:139210
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Recurrent infecti... ORPHA:911
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Downslan... ORPHA:2969
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Cleft palate, Microphthalmia OMIM:616570
Erosive Pustular Dermatosis Of The Scalp
Abnormal hair morphology, Scarring alopecia of scalp, Pustule ORPHA:222
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Long eyelashes, Telecanthus, Death in childhood, Epica... OMIM:617303
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Respiratory failure OMIM:614299
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Abnormal heart morphology, Absent gallbladder, Median cleft palate... OMIM:184705
Lethal Congenital Contracture Syndrome 9
Antecubital pterygium, Cardiorespiratory arrest, Axillary pterygium, Pulmonary hypoplasia OMIM:616503
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Vascular Ehlers-Danlos Syndrome
Keratoconus, Periodontitis, Cryptorchidism, Mitral valve prolapse, Abnormal intestine morphology,... ORPHA:286
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Microphthalmia OMIM:274270
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczematoid dermatitis, Pustule, Erythroderma, Pruritus, Abnormality of ... ORPHA:2897
Yellow Nail Syndrome
Generalized abnormality of skin, Dyspnea, Recurrent respiratory infections, Pleuritis, Bronchiect... ORPHA:662
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Decreased response to growth hormone stimulation test, Contracture of the proxi... OMIM:618223
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Keratoconj... ORPHA:79242
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair OMIM:104100
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Fetal Alcohol Syndrome
Telecanthus, Congenital diaphragmatic hernia, Generalized hirsutism, Epicanthus, Ptosis, Atrial s... ORPHA:1915
Cataract 48
Cataract OMIM:618415
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia ORPHA:163937
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Ptosis... ORPHA:365
Auriculocondylar Syndrome 2A
Respiratory distress, Ptosis, Apnea OMIM:614669
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Hypertrichosis, Long eyelashes, Thic... OMIM:614961
Schwartz-Jampel Syndrome, Type 1
Cataract, Microcornea, Joint contracture of the hand, Shoulder flexion contracture, Umbilical her... OMIM:255800
Vici Syndrome
Cataract, Optic atrophy, Abnormal macular morphology, Cardiomyopathy, Abnormality of retinal pigm... ORPHA:1493
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Abnormality of... ORPHA:298
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Congestive heart failure, Transient ischemic attack, Ischemic ... ORPHA:1830
Fg Syndrome 3
Fine hair, Frontal upsweep of hair, Chronic constipation, Sparse hair, Feeding difficulties, Pylo... OMIM:300406
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract, Right ventricular dilatation ORPHA:369847
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Vomiting, Failure to thrive in infancy, Osteomyelitis, Hyponatremia, Pustule, ... ORPHA:171876
Al-Gazali Syndrome
Sclerocornea, Wrist flexion contracture, Recurrent pneumonia, Corneal opacity OMIM:609465
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Gastroesophageal reflux, Peters anomaly, Annular pancreas, Duodenal atresia, Downs... OMIM:616975
Tatton-Brown-Rahman Syndrome
Horizontal eyebrow, Umbilical hernia, Tricuspid regurgitation, Thick eyebrow, Mitral regurgitatio... OMIM:615879
Classic Phenylketonuria
Cataract, Hypopigmentation of hair, Eczematoid dermatitis ORPHA:79254
Cousin Syndrome
Microcornea, Short palpebral fissure, Microglossia, Joint contracture of the hand, Facial hirsuti... OMIM:260660
Hyperekplexia 4
Respiratory failure OMIM:618011
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Small hand, Dilated cardiomyopathy, Short clavicles, Bicuspid aortic valve... ORPHA:401923
Neu-Laxova Syndrome
Pterygium, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash ... ORPHA:2671
Jacobsen Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Epicanthus, Iris coloboma, Duod... ORPHA:2308
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, High, narrow palate, Abnormality iris morphology, Abnormality of connective... ORPHA:91387
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ptosis, Cataract, Dilated cardiomyopathy, Intestinal pseudo-obstruction ORPHA:70595
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Stevenson-Carey Syndrome
Joint contracture of the hand, Gastroesophageal reflux, Downslanted palpebral fissures, Coloboma,... OMIM:611961
Pachydermoperiostosis
Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Abnormal fingernail morphology,... ORPHA:2796
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Weight loss, Bronchiectasis ORPHA:1164
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Stickler Syndrome, Type Ii
High, narrow palate, Cataract, Bifid uvula, Abnormal vitreous humor morphology, Retinal detachmen... OMIM:604841
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg... OMIM:153670
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Alopecia universalis, Eczematoid dermatitis, Hepatosplenomegaly, Villous atrophy, Pso... OMIM:606367
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Small bowel diverticula, Congestive heart failure, Dilatation of the ventri... ORPHA:90348
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Ptosis, Respiratory failure, Death in childhood OMIM:615838
Chromosome 13Q33-Q34 Deletion Syndrome
Epicanthus, Pulmonary hypoplasia OMIM:619148
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Syndactyly, Clinodactyly, Short finger OMIM:300049
Microphthalmia, Syndromic 6
Bifid uvula, Microcornea, Microglossia, Cryptorchidism, Anophthalmia, Orbital cyst, Coloboma, Mic... OMIM:607932
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Cataract, High, narrow palate, Bifid uvula, Submucous cleft hard palate, E... ORPHA:2780
Ulerythema Ophryogenesis
Contact dermatitis, Acne, Sparse lateral eyebrow ORPHA:3406
Lcat Deficiency
Corneal opacity ORPHA:650
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Optic atrophy, Gastroesophageal reflux, Long eyelashes, Thick eyebrow, Upslanted palpeb... OMIM:619833
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Tachypnea, Recurrent respiratory infe... OMIM:618278
Basal Cell Nevus Syndrome 1
Cataract, Cardiac rhabdomyoma, Cardiac fibroma, Orbital cyst, Ovarian carcinoma, Ovarian fibroma,... OMIM:109400
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c... OMIM:607271
Oligomeganephronia
Optic disc coloboma, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Narrow palate, Joint contracture of the hand, Erysipelas, Umbilical h... OMIM:235510
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hypertrichosis, Splenomegaly, Hirsutism, Hernia, Rod-cone dystrophy, Hepatomegaly, A... OMIM:252930
Isaacs Syndrome
Weight loss ORPHA:84142
Peeling Skin Syndrome 1
Nail dystrophy, Onycholysis, Erythroderma, Brittle hair, Pruritus OMIM:270300
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Upslanted palpebral fissure, Ventricular septal defect, Pu... ORPHA:75389
X-Linked Mandibulofacial Dysostosis
Downslanted palpebral fissures, Abnormal mitral valve morphology, Epicanthus, Ptosis, Aplasia/Hyp... ORPHA:1131
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Cataract, Increased circulating gonadotropin level ORPHA:2410
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Tetralogy of Fallot, Inguinal hernia, Submucous cleft hard palate, Hip contracture, Zon... OMIM:222765
Shigellosis
Anorexia, Abdominal pain, Abnormal blood ion concentration, Intestinal perforation, Bloody mucoid... ORPHA:810
Aniridia 3
Cataract, Aniridia OMIM:617142
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Smooth tongue, Atrophic scars, Nail dystrophy, Scarring, Enamel hypoplasia, Corneal opa... ORPHA:79396
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Rabin-Pappas Syndrome
Cataract, Short palpebral fissure, Highly arched eyebrow, Downslanted palpebral fissures, Upslant... OMIM:620155
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Abnormal optic nerve mor... ORPHA:79430
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Palpebral edema, Erythema, Angioedema ORPHA:100057
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Foxp1 Syndrome
Failure to thrive, Downslanted palpebral fissures, Abnormal heart morphology, Recurrent otitis me... ORPHA:391372
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain ORPHA:168816
Developmental And Epileptic Encephalopathy 66
Downslanted palpebral fissures, Astigmatism, Ventricular septal defect, Atrial septal defect, Dex... OMIM:618067
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Respiratory insufficiency, Cutis marmorata, Abnormal pleura morphology, Purpura,... ORPHA:183
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Vitamin K Antagonist Embryofetopathy
Cataract, Macroglossia, Optic atrophy, Aplasia/Hypoplasia affecting the eye ORPHA:1914
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Macrophage Activation Syndrome
Hypoalbuminemia, Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor ... ORPHA:158061
Larsen Syndrome
Short nail, Cryptorchidism, Ventricular septal defect, Shallow orbits, Atrial septal defect, Corn... OMIM:150250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia, ... ORPHA:79280
Legius Syndrome
Cataract, Xanthelasma, Mitral valve prolapse, Paroxysmal atrial tachycardia, Multiple lipomas, De... ORPHA:137605
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Oculopalatocerebral Syndrome
Leukocoria, Cleft palate, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Highly arched eyebrow, Macroglossia, Pneumonia, Umbilical hernia,... ORPHA:309282
Myotonic Dystrophy 1
Cataract, Cholelithiasis, Frontal balding, Atrial flutter, First degree atrioventricular block, T... OMIM:160900
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... ORPHA:35710
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Atelosteogenesis Type Ii
Epicanthus, Telecanthus, Pulmonary hypoplasia ORPHA:56304
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Waardenburg Syndrome, Type 3
Joint contracture of the hand, Hypopigmented skin patches, Premature graying of hair, Camptodacty... OMIM:148820
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy OMIM:615042
Linear Nevus Sebaceus Syndrome
Alopecia, Adenoma sebaceum, Telecanthus, Microphthalmia, Iris coloboma ORPHA:2612
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Low posterior hairline, Congenital muscular torticollis, Ectopic anus,... ORPHA:2345
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Gastroesophageal reflux, Bundle branch block, First degree atrioventricular block, Abno... ORPHA:589821
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Downslanted palpebral fissures, Bi... OMIM:619542
Autoinflammation With Arthritis And Dyskeratosis
Corneal neovascularization, Splenomegaly, Punctate keratitis, Keratoconjunctivitis sicca, Hepatom... OMIM:617388
Temple-Baraitser Syndrome
Epicanthus, Atrial septal defect, Pulmonic stenosis OMIM:611816
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Absence of the pulmonary valve OMIM:618780
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Epicanthus, Atrial septal defect, Microphthalmia... ORPHA:84
Alg1-Cdg
Abnormal heart morphology, Protein-losing enteropathy, Abnormality of the gastrointestinal tract,... ORPHA:79327
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Desbuquois Syndrome
Camptodactyly of finger, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:1425
Abetalipoproteinemia
Hypopigmentation of the fundus, Congestive heart failure, Abnormality of retinal pigmentation, Ca... ORPHA:14
Contractural Arachnodactyly, Congenital
Ectopia lentis, Elbow flexion contracture, Mitral regurgitation, Mitral valve prolapse, Ventricul... OMIM:121050
Mogs-Cdg
Short palpebral fissure, Respiratory distress, Long eyelashes, Apnea, Hypoventilation, Pulmonary ... ORPHA:79330
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Cataract, Pigmentary retinopathy, Joint contracture of the hand, Attenuation of re... OMIM:609033
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Nevus Comedonicus Syndrome
Abnormal hair morphology, Cataract ORPHA:64754
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Intestinal obstruction, Increa... ORPHA:449400
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Fine hair, Brittle hair ORPHA:1573
Marfan Syndrome
Increased axial length of the globe, Premature osteoarthritis, Mitral regurgitation, Mitral valve... OMIM:154700
Tyrosinemia Type 2
Abnormality of the nail, Corneal opacity ORPHA:28378
Cardiofaciocutaneous Syndrome
Cryptorchidism, Low posterior hairline, Epicanthus, Atrial septal defect, Brittle hair, High pala... ORPHA:1340
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Bcard Syndrome
Cataract, Coarse hair, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow... OMIM:612394
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Atelectasis, Respiratory insufficiency, Long eyelashes, Telecanthus, Upsla... OMIM:620371
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El... ORPHA:85435
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Recurrent otitis media, Arrhythmia, Flexion contracture of finger, Ery... OMIM:256040
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Upper eyelid coloboma, Limbal dermoid, Cleft palate ORPHA:398156
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Atrial septal defect, Mitral stenosis, Mitral atresia ORPHA:2248
Toxic Epidermal Necrolysis
Erythema, Respiratory distress, Abnormal pleura morphology, Entropion, Conjunctivitis, Recurrent ... ORPHA:537
Gaucher Disease
Aortic valve calcification, Cholelithiasis, Arthrogryposis multiplex congenita, Hepatitis, Abnorm... ORPHA:355
Craniofrontonasal Dysplasia
Ridged fingernail, Downslanted palpebral fissures, Camptodactyly of finger, Congenital diaphragma... ORPHA:1520
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Sparse eyebrow, Upslanted palpebral fissure, Respiratory failure, Respirator... ORPHA:496641
Mucopolysaccharidosis, Type Iva
Recurrent pneumonia, Abnormal heart valve morphology, Grayish enamel, Inguinal hernia, Hepatomega... OMIM:253000
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentratio... ORPHA:90362
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Failure to thrive, Increased... ORPHA:277
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Telecanthus, Upslanted palpebral fissure, Patent foramen oval... OMIM:157800
Autoimmune Hypoparathyroidism
Cataract, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Prolonged QT interval... ORPHA:36913
Restrictive Dermopathy 1
Short palpebral fissure, Sparse eyebrow, Stillbirth, Sparse eyelashes, Absent eyelashes, Neonatal... OMIM:275210
Syndromic Diarrhea
Intractable diarrhea, Panhypogammaglobulinemia, Trichorrhexis nodosa, Abnormal heart morphology, ... ORPHA:84064
Hypogonadism-Cataract Syndrome
Cataract, Elevated circulating follicle stimulating hormone level OMIM:240950
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent otitis media, Cryptorchidism, Reduced su... ORPHA:3455
Cockayne Syndrome
Lentiglobus, Dry hair, Cryptorchidism, Reduced subcutaneous adipose tissue, Microphthalmia, Hepat... ORPHA:191
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Atrioventricular c... OMIM:619135
Fryns Microphthalmia Syndrome
Bilateral cleft palate, Anophthalmia, Microphthalmia OMIM:600776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Epicanthus, Pulmonary hypoplasia OMIM:614080
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Respiratory failure OMIM:250940
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hypertrichosis, Downslanted palpebral fissures, Splenomegaly, Death i... OMIM:235255
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Fine hair, Long eyelashes, Gastrostomy tube feeding in infancy, Feeding d... ORPHA:231137
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return ORPHA:99104
Livedoid Vasculopathy
Anemia, Pancytopenia, Leukocytosis, Polycythemia ORPHA:542643
Pontocerebellar Hypoplasia, Type 17
Gastroesophageal reflux, Secundum atrial septal defect, Upslanted palpebral fissure, Ventricular ... OMIM:619909
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Increased total bilirubin, Scle... ORPHA:2137
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Behçet Disease
Mitral regurgitation, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal hemorrhage, ... ORPHA:117
Radio-Tartaglia Syndrome
High, narrow palate, Highly arched eyebrow, High anterior hairline, Gastroesophageal reflux, Smal... OMIM:619312
Immunodeficiency 48
Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Chronic diarrhea OMIM:269840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Retinal dystrophy, Microphthalmia OMIM:616538
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr... OMIM:603041
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Highly arched eyebrow, Megalocornea, Downslanted palpebral fissures, Teleca... OMIM:609460
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Chromosome 5Q12 Deletion Syndrome
Hypotension, Astigmatism, Patent foramen ovale, Ventricular septal defect, Epicanthus, Long palpe... OMIM:615668
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Supernumerary nipple, Attenuation of retinal blood vessels, Inguinal hernia, Glomerulon... OMIM:614376
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Anorexia ORPHA:86893
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co... ORPHA:141083
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Hypoxemia, Respiratory tract infection, Multiple pulmonary cy... ORPHA:79128
Knobloch Syndrome 1
Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Telecanthus, Attenuation of retinal bloo... OMIM:267750
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Epicanthus, Atrial se... ORPHA:818
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Bicuspid aortic valve, Epicanthus, Pulmonary arterial hypertension... OMIM:613355
Monosomy 13Q14
Cataract, Retinoblastoma, Epicanthus, Ptosis, Abnormality of the gastrointestinal tract, Micropht... ORPHA:1587
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis... OMIM:616576
Flynn-Aird Syndrome
Cataract, Alopecia, Rod-cone dystrophy ORPHA:2047
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Respiratory distress, Repeated p... ORPHA:536467
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Nausea and vomiting, Weight loss, Pancreatitis, Acholic stools, Abdominal pain, Chronic... ORPHA:65682
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Entropion, Abnormal myocardium morphology, Dys... ORPHA:36426
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Villous atrophy, Ileus, Erythroderma, Glomerulonephri... OMIM:304790
Dracunculiasis
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Pruritus, Recurrent cutaneous abscess formation ORPHA:231
Li-Ghorbani-Weisz-Hubshman Syndrome
Telecanthus, Upslanted palpebral fissure, Ventricular septal defect, Epicanthus, Atrial septal de... OMIM:618974
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Optic atrophy, Ptosis, Dysphagia, Temporal optic disc pallor, Morning glory anomaly ORPHA:98673
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Bicuspid aortic valve, Aortic regurgitation, Abnormal left ventricula... OMIM:132900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Achromatopsia 3
Cataract OMIM:262300
Miller-Dieker Lissencephaly Syndrome
Cataract, Joint contracture of the hand, Abnormal heart morphology, Upslanted palpebral fissure, ... OMIM:247200
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Bilateral ptosis, Tricuspid regurgitation, Mega... OMIM:611376
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Downslanted palpebral fissures, Ventricular septal defect, Epicanthus, Abnormal... ORPHA:1770
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Ventricular septal defect, Iris atrophy, Phthisis bulbi, Exudative r... OMIM:259770
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Pulmonary hypoplasia OMIM:619351
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, Retinal detachment, Atrial septal de... OMIM:601776
Coffin-Siris Syndrome 7
Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Patent foramen ovale, Vent... OMIM:618027
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Intrahepatic Cholestasis Of Pregnancy
Pruritus on foot, Abnormal circulating interleukin concentration, Abnormal pineal melatonin secre... ORPHA:69665
Limb Body Wall Complex
Abnormal heart morphology, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal i... ORPHA:2369
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Obesity, Mitral valve prolapse, Low posterior hairline, Sparse facial hair, ... ORPHA:2183
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Carey-Fineman-Ziter Syndrome 1
Cataract, Gastroesophageal reflux, Microglossia, Downslanted palpebral fissures, Cryptorchidism, ... OMIM:254940
Marshall Syndrome
Cataract, Sparse eyebrow, Ectopia lentis, Vitreoretinopathy, Sparse eyelashes, Abnormal vitreous ... ORPHA:560
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Sparse eyebrow, Gastroesophageal reflux, Bifid uvula, Downslanted palpebral fissur... ORPHA:500150
Bardet-Biedl Syndrome 1
High, narrow palate, Cataract, Abnormality of the ovary, Decreased testicular size, Hyperautofluo... OMIM:209900
Microphthalmia, Isolated 4
Absent testis, Coloboma, Microphthalmia OMIM:613094
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Sparse scalp hair, Oral leukoplakia, Nail dystrophy, Pancoli... OMIM:620133
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Hypoventilation, Intercostal muscle weakness, Recurrent l... ORPHA:258
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Small nail, Ankyloglossia, Epicanthus, Aplasia of the thymus, Atrial septal defect, Microphthalmi... OMIM:620186
Hypercalcemia, Infantile, 1
Vomiting, Hypercalcemia, Failure to thrive, Weight loss OMIM:143880
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Dystrophic toenail, Oral leukoplakia, Eczematoid dermatitis, Camptodactyly of finger,... ORPHA:2907
Mend Syndrome
Aortic valve stenosis, Cataract, Cryptorchidism, Upslanted palpebral fissure, Anterior polar cata... OMIM:300960
Mulibrey Nanism
Cachexia ORPHA:2576
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Respiratory insufficiency ORPHA:1860
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Pedal edema, Systolic heart m... ORPHA:2299
Teebi-Shaltout Syndrome
Aortic valve stenosis, Highly arched eyebrow, High, narrow palate, Telecanthus, Low anterior hair... OMIM:272950
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus ORPHA:330064
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, High palate, Failure to thrive, Brittle hair ORPHA:50812
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cataract, Gastroesophageal reflux, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, T... OMIM:615471
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... ORPHA:99106
Treacher-Collins Syndrome
Blepharospasm, Cataract, Downslanted palpebral fissures, Abnormal hair morphology, Abnormal denta... ORPHA:861
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Alopecia of scalp, Erythroderma OMIM:608649
Apolipoprotein A-I Deficiency
Angina pectoris, Xanthelasma, Opacification of the corneal stroma ORPHA:425
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Mevalonic Aciduria
Cataract, Nuclear cataract, Fluctuating splenomegaly, Downslanted palpebral fissures, Morbillifor... OMIM:610377
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Coffin-Lowry Syndrome
Cataract, Optic atrophy, Narrow palate, Downslanted palpebral fissures, Hypoplastic fingernail, H... ORPHA:192
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Cerebral h... OMIM:175780
Xeroderma Pigmentosum
Cataract, Alopecia, Ankyloblepharon, Keratitis, Optic atrophy, Pterygium, Decreased testicular si... ORPHA:910
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cataract, High anterior hairline, Horizontal eyebrow, Thick eyebrow, Protruding tongue, Low anter... OMIM:618797
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Dyspnea, Usual interstitial pneumonia, Pulmonary fibrosis, Premature graying of hair OMIM:620367
Microcephaly-Capillary Malformation Syndrome
Abnormal hair whorl, Small nail, Patent foramen ovale, Ventricular septal defect, Ptosis, Atrial ... OMIM:614261
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Subcapsular cataract, Rod-cone dystrophy, Achilles tendon contracture OMIM:612674
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Low anterior hairline, Low p... OMIM:618440
Weaver Syndrome
Fine hair, Downslanted palpebral fissures, Abnormal fingernail morphology, Camptodactyly of finge... ORPHA:3447
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Downslanted palpebral fissures, Thick eyebrow, Frontal upsweep of hair, Upslanted palpebral fissu... OMIM:617061
Revesz Syndrome
Ridged fingernail, Oral leukoplakia, Fine hair, Megalocornea, Nail dystrophy, Leukocoria, Exudati... OMIM:268130
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Dysphagia, Intestinal pseudo-obstruction OMIM:619780
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Narrow palate, Dilated cardiomyopathy, Elbow flexion contracture, Hypoplastic toenails,... OMIM:608836
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid valve prolapse, Mitral valve prolapse, Downslant... ORPHA:284979
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Downslanted palpebral fissures, Tetralogy of Fallot, Recurrent otitis media, Cryptorchidism, Over... ORPHA:3304
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... ORPHA:98897
Yunis-Varon Syndrome
Cryptorchidism, Ventricular septal defect, Sparse eyelashes, Atrial septal defect, Microphthalmia... ORPHA:3472
Mucopolysaccharidosis, Type Iiia
Coarse hair, Umbilical hernia, Splenomegaly, Inguinal hernia, Hirsutism, Hepatomegaly, Asymmetric... OMIM:252900
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma, Bilateral cryptorchidism OMIM:618840
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Foot osteomyelitis, Osteomyelitis OMIM:162400
Keutel Syndrome
Alopecia, Recurrent otitis media, Recurrent sinusitis, Ventricular septal defect, Pulmonary arter... ORPHA:85202
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Portal hypertension, Cryptorchidism, Patent foramen ovale, Absence of subcutaneous fat,... OMIM:620005
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cataract, Anterior lenticonus, Gastroesophageal reflux, Keratitis, Aspiration pneumonia, Abnormal... ORPHA:1018
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Weight loss, Elevated circulating C-reactive protein c... ORPHA:767
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Short palpebral fissure, Downslanted palpebral fissures, Cryptorchidism, Upslanted p... OMIM:616734
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic valve calcification OMIM:114065
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Resp... ORPHA:99125
Squalene Synthase Deficiency
Elbow flexion contracture, Knee flexion contracture, Abnormality of hair pigmentation, Bicuspid a... OMIM:618156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... OMIM:620375
Distal 22Q11.2 Microduplication Syndrome
Downslanted palpebral fissures, Upslanted palpebral fissure, Ventricular septal defect, Tricuspid... ORPHA:261337
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Oral leukoplakia, Folliculitis, Nail dystroph... OMIM:167210
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Acne inversa, Panniculitis, Elevated circulating C-reactive protein conce... OMIM:608068
Williams Syndrome
Megalocornea, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovarie... ORPHA:904
Spherocytosis, Type 1
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:182900
Fanconi Anemia, Complementation Group S
Long eyelashes, Upslanted palpebral fissure, Ovarian carcinoma, Low anterior hairline, Epicanthus... OMIM:617883
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Recurrent pneumonia, Gastroesophageal reflux, Umbil... OMIM:619769
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Dyskeratosis Congenita
Periodontitis, White hair, Premature graying of hair, Hepatomegaly, Sparse hair, Esophageal steno... ORPHA:1775
Behcet Syndrome
Hypopyon, Chorioretinitis, Patchy alopecia, Iridocyclitis, Raynaud phenomenon, Arthritis, Erythem... OMIM:109650
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Camptodactyly of finger, Abnormal heart morphology, Elbow flexion contr... OMIM:610758
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Cryptorchidism, Ptosis, Blepharophimosis, Atrial septal defect, Microphth... ORPHA:2728
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cataract, Umbilical hernia, Telecanthus, Cryptorchidism, Epicanthus, Telangiectasia of the skin, ... ORPHA:85321
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Blomstrand Lethal Chondrodysplasia
Telecanthus, Pulmonary hypoplasia ORPHA:50945
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Inguinal hernia, Thick hair, Downslanted palpebral fissures ORPHA:357058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Microphtha... OMIM:614643
Succinic Acidemia
Respiratory distress OMIM:600335
Eec Syndrome
Sparse eyebrow, Coarse hair, Keratitis, Xerostomia, Fine hair, Decreased response to growth hormo... ORPHA:1896
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Myocardial eosinophilic i... ORPHA:3260
Kniest Dysplasia
Cataract, Vitreoretinopathy, Bilateral ptosis, Degenerative vitreoretinopathy, Flexion contractur... ORPHA:485
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Fontaine Progeroid Syndrome
Short palpebral fissure, Aplastic/hypoplastic lacrimal glands, Respiratory insufficiency, Downsla... OMIM:612289
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Ptosis, Facial hypotonia, Lacrimal duct stenosis, High p... OMIM:618798
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anophthalmia, Coloboma, Microphthalmia, Cy... OMIM:147250
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Vomiting, Eczematoid dermatitis, Failure to thrive in infancy, D... OMIM:619510
Aymé-Gripp Syndrome
Cataract, Megalocornea, Downslanted palpebral fissures, Breast hypoplasia, Long eyelashes, Bilate... ORPHA:1272
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Diffuse alveolar hemorrhage, Periodontitis, Cigarette-paper scars, Arterial rupture,... OMIM:130050
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Optic atrophy, Microphthalmia OMIM:610651
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cataract, Short palpebral fissure, Bifid uvula, Hypertrichosis, Astigmatism, Atrial septal defect... OMIM:300968
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Ventricular septal defect OMIM:618506
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Ogden Syndrome
High, narrow palate, Cardiogenic shock, Fine hair, Downslanted palpebral fissures, Cryptorchidism... ORPHA:276432
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea ORPHA:31826
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Sparse eyelashes, Telangiectasia, Cutaneous p... ORPHA:125
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Acne, Hirsutism OMIM:604931
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Ptosis, Exertional dyspnea, Respiratory insufficiency d... OMIM:220110
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:256710
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Umbilical hernia, Esophagitis, Inguinal hernia, Developmental cataract, ... ORPHA:79351
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Telecanthus, Ptosis, Blepharophimosis, Stillbirth, Pulmonary hypoplasia OMIM:208150
Cockayne Syndrome B
Sparse hair, Optic atrophy, Microcornea, Dry hair, Pigmentary retinopathy, Atypical scarring of s... OMIM:133540
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Upslanted palpebral fissure, Ventricular septal defect, Atrial septal defe... OMIM:618142
Prune Belly Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:2970
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Supernumerary nipple, Telecanthus, Microphthalmia, Iris coloboma ORPHA:1236
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Short palpebral fissure, Abnormal lung lobation, Downslanted palpebral fiss... OMIM:614114
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Bicuspid aortic valve, Epicanthus, Sutural cataract, Atrial septal defect, Micro... OMIM:612474
Noonan Syndrome 12
Atopic dermatitis, Anteriorly placed anus, Tetralogy of Fallot, Supravalvular aortic stenosis, Ve... OMIM:618624
Filippi Syndrome
Frontal hirsutism, Sparse hair, Ventricular septal defect, Hypertrichosis OMIM:272440
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Failure to thrive, Eczematoid dermatit... OMIM:243700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice ORPHA:26793
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Micro... ORPHA:649
Skraban-Deardorff Syndrome
Recurrent otitis media, Sparse lateral eyebrow, Cleft palate, Ventricular septal defect OMIM:617616
Blau Syndrome
Xerostomia, Abnormal choroid morphology, Synovitis, Abnormal retinal vascular morphology, Iridocy... ORPHA:90340
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction,... OMIM:201475
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Decreased c... OMIM:616100
Hydrolethalus
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Anophthalmia, Microphthalmia, Cleft palate ORPHA:2189
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Gastrointestinal hemorrhage, Optic atrophy, Ectopia lentis, Pulmonary embolism, Cerebra... ORPHA:394
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Optic atrophy, Ptosis, Buphthalmos, Tongue atrophy, Developmental glaucoma ORPHA:99956
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Peroxisome Biogenesis Disorder 4A (Zellweger)
Upslanted palpebral fissure, Epicanthus inversus, Respiratory failure, Death in infancy OMIM:614862
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Premature graying of hair, Abnormal hair morphology, Hy... ORPHA:1979
Antisynthetase Syndrome
Aortic regurgitation, Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Telangiectasia... ORPHA:81
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Premature graying of hair, Elbow flexion contracture, L... OMIM:616200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Macroglossia, Peters anomaly, Congenital contracture, Microphthalmia, Buphthalmos, Pers... OMIM:613150
Lathosterolosis
Cataract, Microcornea, Downslanted palpebral fissures, Epicanthus, Ptosis, Hepatomegaly, High pal... ORPHA:46059
Hartsfield Syndrome
Downslanted palpebral fissures, Telecanthus, Ptosis, Microphthalmia, Cleft palate ORPHA:2117
Generalized Pustular Psoriasis
Congestive heart failure, Palmoplantar pustulosis, Pustule, Erythroderma, Geographic tongue, Arth... ORPHA:247353
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Eczematoid dermatitis, Downslanted palpebral ... ORPHA:83617
Trigonocephaly With Short Stature And Developmental Delay
Epicanthus, High palate, Ventricular septal defect OMIM:314320
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs ORPHA:2549
Progeroid Syndrome, Petty Type
Failure to thrive, Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Gen... ORPHA:2963
Intellectual Developmental Disorder, Autosomal Recessive 79
Eczematoid dermatitis, Ventricular septal defect OMIM:620393
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Eosinophilic ... OMIM:618999
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Periodontitis, Cryptorchidism, Microphthalmia, Chorioretinal dysplasia, Chronic otit... ORPHA:534
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Coarse hair, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morphology, ... ORPHA:1021
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Short Syndrome
Cataract, Megalocornea, Telecanthus, Rieger anomaly, Absence of subcutaneous fat, Astigmatism, Ov... OMIM:269880
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Mitral regurgitation, Mitral valve prolapse, Telangiectasia, Cerebral ar... OMIM:175050
Yuan-Harel-Lupski Syndrome
Sandal gap, Downslanted palpebral fissures, Upslanted palpebral fissure, Ventricular septal defec... OMIM:616652
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Cryptorchidism, Upslanted palpebral fissure, Epicanthus, Atrial septal defect, Cleft pa... OMIM:257300
Alport Syndrome 2, Autosomal Recessive
Cataract, Nephritis, Anterior lenticonus, Hypertension, Corneal erosion OMIM:203780
Woods Syndrome
Hypoplastic fifth toenail, Supernumerary nipple, Ventricular septal defect, Broad nail, Frontal h... OMIM:615236
Dubowitz Syndrome
Cataract, Anal stenosis, Sparse lateral eyebrow, Fine hair, Eczematoid dermatitis, Abnormal finge... ORPHA:235
Inverted Duplicated Chromosome 15 Syndrome
Downslanted palpebral fissures, Tetralogy of Fallot, Ventricular septal defect, Epicanthus, High ... ORPHA:3306
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Axillary pterygium, Atrophic scars, Congenital pyloric atresia, Nail dystrophy, Nail dysplasia, E... OMIM:226730
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Epicanthus, Recurrent upper respiratory tract infections, Recurrent pneumonia OMIM:607143
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... ORPHA:991
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Epicanthus, High palate, Ventricular septal defect ORPHA:3369
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal lung lobation, Truncus arteriosus, Ventricular septal defect, Bleph... ORPHA:2516
Noonan Syndrome
Coarse hair, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal ... ORPHA:648
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Mitral valve prolapse, Low posterior hairline, Retinal ... OMIM:605822
Otopalatodigital Syndrome Type 2
Downslanted palpebral fissures, Pulmonary hypoplasia ORPHA:90652
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Death in infancy, Neonatal death, Perimembranous ventricular septal d... OMIM:608104
Breath-Holding Spells
Cyanosis OMIM:607578
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Nijmegen Breakage Syndrome
Recurrent pneumonia, Upslanted palpebral fissure, Abnormal eyelid morphology, Recurrent sinopulmo... ORPHA:647
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... ORPHA:274
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglionic megacolon, White ey... ORPHA:2884
Mu-Heavy Chain Disease
Weight loss, Increased circulating antibody level ORPHA:100024
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Upslanted palpebral fi... OMIM:620233
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Ciliary Dyskinesia, Primary, 1
Pneumonia, Abnormal cornea morphology, Situs inversus totalis, Chronic sinusitis, Chronic rhiniti... OMIM:244400
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Skin rash, Arthritis, Uveitis OMIM:120100
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Aicardi Syndrome
Optic atrophy, Cataract, Recurrent pneumonia, Sparse lateral eyebrow, Optic disc coloboma, Hiatus... OMIM:304050
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya... OMIM:233450
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia, Elevated circulating creatine kinase concentration ORPHA:1933
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Stillbirth, Pulmonary hypoplasia OMIM:308050
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia OMIM:208540
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Bosma Arhinia Microphthalmia Syndrome
Cataract, Lacrimal duct atresia, Cryptorchidism, Inguinal hernia, Coloboma, Microphthalmia, High ... OMIM:603457
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Abnormal right ventricle morphology, Downslanted palpebral fissures, Retinal coloboma, ... ORPHA:500095
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Watson Syndrome
Lisch nodules, Epicanthus, Pulmonic stenosis OMIM:193520
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Uveitis, Erysipelas, Fasciitis, Splenomegaly, Intestinal obstruction, Orc... ORPHA:32960
Acrorenal-Mandibular Syndrome
Epicanthus, Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:200980
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Chronic decreased circulating IgG1, Reduced hair sulfur content, Tiger tail bandi... OMIM:300953
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Cleft... ORPHA:2476
Frank-Ter Haar Syndrome
Abnormally large globe, Secundum atrial septal defect, Megalocornea, Downslanted palpebral fissur... OMIM:249420
Intellectual Disability, Buenos-Aires Type
Fine hair, Downslanted palpebral fissures, Abnormal fingernail morphology, Umbilical hernia, Hype... ORPHA:3079
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Degcags Syndrome
Oral-pharyngeal dysphagia, Premature graying of hair, Hepatosplenomegaly, Cryptorchidism, Protrud... OMIM:619488
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon, Supernumerary nipple, Sparse body hair, Lacrimal duct atresia, Nail dystrophy, S... OMIM:106260
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Failure to thrive... OMIM:620376
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Dry hair, White hair, Hepatosplenomegaly, Mitral regu... ORPHA:576
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Low posterior hair... OMIM:179613
Codas Syndrome
Cataract, Gastroesophageal reflux, Atrioventricular canal defect, Cryptorchidism, Ventricular sep... OMIM:600373
Usher Syndrome
Cataract, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Abnormal cardiovascular... ORPHA:886
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Bicus... OMIM:619721
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Developmental cataract, Ventricular septal defect ORPHA:357225
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Axial Mesodermal Dysplasia Spectrum
Limbal dermoid, Aplasia/Hypoplasia of the lungs ORPHA:1834
Ogden Syndrome
Peripheral pulmonary artery stenosis, Palpebral thickening, Sparse eyebrow, Downslanted palpebral... OMIM:300855
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Failure to thrive in infancy, Increased circulating IgE level, Hypoplasia ... OMIM:617241
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hypoalbuminemia, Failure to thrive, Abnormal circulating homocysteine concent... ORPHA:88618
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Retinal astrocytic hamartoma, Pulmonary ly... ORPHA:805
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Splenomegaly, Loss of eyelashes, Keratoconjunctiv... ORPHA:95159
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Monosomy 18P
Alopecia, Low posterior hairline, Epicanthus, Ptosis, Microphthalmia, Hypertension, Cleft palate ORPHA:1598
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Pulmonary hypoplasia OMIM:616546
Neurofibromatosis Type 1
Cataract, Chorioretinal coloboma, Pheochromocytoma, Cryptorchidism, Abnormality of retinal pigmen... ORPHA:636
Facial Clefting, Oblique, 1
Coloboma, Cleft palate, Microphthalmia OMIM:600251
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Ventricular septal defect, Hepatomegaly, Recurrent respiratory infections, Recurren... OMIM:620210
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Bilateral cryptorchidism, Transient ischemic attack, Cerebral ischemia, A... OMIM:242900
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Ptosis, Microphthalmia, Hepatomegaly, High palate, Spa... OMIM:619185
Loeys-Dietz Syndrome 1
Downslanted palpebral fissures, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Pos... OMIM:609192
Lateral Meningocele Syndrome
Coarse hair, Keloids, Downslanted palpebral fissures, Umbilical hernia, Telecanthus, Cryptorchidi... OMIM:130720
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Proximal Myotonic Myopathy
Cataract ORPHA:606
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Failure to thrive, Bloody... OMIM:617718
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Upslanted palpebral fissure, Epicanthus, Synophrys OMIM:190440
Mosaic Trisomy 8
Camptodactyly of finger, Decreased testicular size, Cryptorchidism, Corneal opacity, High palate,... ORPHA:96061
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Alopecia, Band keratopathy, Chronic mucocutaneous candidiasis, Hepatitis, Keratoconjunc... OMIM:269200
Werner Syndrome
Lipoatrophy, Cataract, Abnormal hair whorl, Gastrointestinal carcinoma, Chondrocalcinosis, Premat... ORPHA:902
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Erythroderma, Hepatomegaly, Pruritus ORPHA:79456
Aortic Valve Disease 2
Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale OMIM:614823
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Short 5th finger, Highly arched eyebrow, Small hand, Toe syndactyly, Hooded eyelid, Long eyelashe... OMIM:610759
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Cyclic Neutropenia
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... ORPHA:2686
Pseudotrisomy 13 Syndrome
Cyclopia, Median cleft palate, Complete atrioventricular canal defect, Cryptorchidism, Ventricula... OMIM:264480
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Slow-growing hair, Pruritus, Sparse ha... OMIM:618535
Ichthyosis With Erythrokeratoderma
Leukonychia, Pruritus, Erythroderma, Nail pits OMIM:620507
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Astigmatism, Upslanted palpebral fissure, Ventricu... ORPHA:261250
Congenital Syphilis
Pneumonia, Cataract, Optic atrophy, Keratitis, Hepatosplenomegaly, Chorioretinitis, Synovitis, Rh... ORPHA:499009
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Macrog... OMIM:618523
Alkuraya-Kucinskas Syndrome
Cataract, Upslanted palpebral fissure, Camptodactyly, Pericardial effusion, High palate, Arthrogr... OMIM:617822
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Fine hair, Upslanted palpebral fissure, Epicanthus, High palate, Widow's peak OMIM:615828
Leishmaniasis
Hypoalbuminemia, Increased circulating antibody level, Weight loss, Anorexia, Rhinitis ORPHA:507
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... OMIM:301082
Kindler Syndrome
Symblepharon, Anal stenosis, Periodontitis, Oral leukoplakia, Ridged nail, Corneal erosion, Telan... OMIM:173650
Malaria
Respiratory distress ORPHA:673
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Osteomyelitis, Gastrointestinal dysmotility, Flexion contractur... ORPHA:88628
Jansen-De Vries Syndrome
Small hand, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Short foot OMIM:617450
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Gastroesophageal reflux, Ventricular septal defect, Supernumerary nipple OMIM:617635
Adams-Oliver Syndrome 5
Dystrophic toenail, Umbilical hernia, Absent toenail, Splenomegaly, Patent foramen ovale, Hypopla... OMIM:616028
Ataxia-Telangiectasia
Skeletal muscle atrophy, Recurrent respiratory infections, Premature graying of hair, Telangiecta... ORPHA:100
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613736
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Small nail, Tetralogy of Fallot, Abnormal fingernail morphology, Situs inversu... ORPHA:1908
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hypertrichosis, Downslanted palpebral fissures, Hepatosplenomegaly, S... ORPHA:1655
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cataract, Cardiomyopathy, Dilatation of the ventricular cavity ORPHA:363623
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Woolly hair OMIM:619691
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Long eyelashes, Bi... OMIM:618529
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Eczematoid dermatitis, Obesity, Upslanted palpebral fissure, Subvalvular a... OMIM:600430
Pulmonary Hypertension, Primary, 1
Telangiectasia, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary ... OMIM:178600
Rhabdoid Tumor
Nausea and vomiting, Neoplasm of the liver, Weight loss, Abdominal pain, Hypercalcemia, Poor appe... ORPHA:69077
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Supernumerary nipple, Thi... OMIM:620098
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia, Downslanted palpebral fissures OMIM:608799
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te... OMIM:610655
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat... OMIM:615512
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cataract, Dilated cardiomyopathy, Skin rash, Left ventricular hypertrophy, Tachycardia OMIM:618321
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cryptorchidism, Patent foramen ovale, Atrial septal defect, Limb joint contracture OMIM:620327
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Thenar muscle atrophy, Hirsutism, Low p... ORPHA:2463
X Small Rings
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricular sept... ORPHA:96201
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea ORPHA:99103
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Recurrent pneumonia, Hypoventilation, Jaundice, Respiratory failure, Pu... ORPHA:731
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect OMIM:616816
Ichthyosis, Congenital, Autosomal Recessive 9
Ectropion, Erythroderma OMIM:615023
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Thick eyebrow, Rieger anomaly, Upslanted palpebral fissure, Patent foramen... OMIM:270450
Listeriosis
Pneumonia, Respiratory distress, Jaundice, Conjunctivitis, Respiratory failure, Miscarriage ORPHA:533
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
High anterior hairline, Ptosis, Achalasia, Orthostatic hypotension, Anisocoria, Dysphagia, Esopha... OMIM:615510
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Right Atrial Isomerism
Common atrium, Total anomalous pulmonary venous return, Abnormal lung lobation, Tetralogy of Fall... OMIM:208530
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Myhre Syndrome
Cataract, Short palpebral fissure, Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Ingu... ORPHA:2588
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Maculopapular... OMIM:142680
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Celiac Disease, Susceptibility To, 1
Alopecia, Diarrhea, Vomiting, Eczematoid dermatitis, Celiac disease, Failure to thrive, Decreased... OMIM:212750
Leigh Syndrome
Cataract, Alopecia, Optic atrophy, Abnormal optic nerve morphology, Eczematoid dermatitis, Hypert... ORPHA:506
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Cholelithiasis, Hematochezia, Pigmentary retinopathy, Giant cell hepatitis ORPHA:79095
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Downslanted palpebral fissures, Abnormal left ventricle morphology, Upslanted palpebral fissure, ... ORPHA:466791
Congenital Tricuspid Stenosis
Tricuspid stenosis ORPHA:95459
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure OMIM:604320
Chromosome 9P Deletion Syndrome
High, narrow palate, Highly arched eyebrow, Narrow palate, Fair hair, Upslanted palpebral fissure... OMIM:158170
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Lower eyelid coloboma, Sparse eyelashes OMIM:616367
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Ventricular septal defect,... OMIM:617452
Zimmermann-Laband Syndrome 1
Cataract, Highly arched eyebrow, Gastroesophageal reflux, Small nail, Cardiomyopathy, Umbilical h... OMIM:135500
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Hepatosplenomegaly, Erythroderma ORPHA:169154
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,... ORPHA:129
Greenberg Dysplasia
Neonatal death, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation OMIM:215140
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Dilated cardiomyopathy, Retinal pigment epithelial mottling, Intestinal pseudo-obstruct... OMIM:607459
Argininosuccinic Aciduria
Dry hair, Vomiting, Failure to thrive, Trichorrhexis nodosa, Hyperammonemia, Increased circulatin... OMIM:207900
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Lateral Meningocele Syndrome
High, narrow palate, Umbilical hernia, Downslanted palpebral fissures, Ventricular septal defect,... ORPHA:2789
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis OMIM:615225
Combined Immunodeficiency-Enteropathy Spectrum
Congenital pulmonary airway malformation, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... ORPHA:436252
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... OMIM:309350
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Dyspnea, Abnormal pulmonary i... OMIM:615486
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, ... ORPHA:544482
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Alg9-Cdg
Abnormal lung lobation, Telecanthus, Shallow orbits, Pulmonary hypoplasia ORPHA:79328
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Cardiomegaly, Gastrointestinal ... ORPHA:391428
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Burn-Mckeown Syndrome
Bifid uvula, Short palpebral fissure, Lower eyelid coloboma, Ventricular septal defect, Blepharop... OMIM:608572
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Downslanted palpebral fissures, Megalocornea, Breast hypoplasia, Long eyelashes, Crypto... OMIM:601353
Roberts-Sc Phocomelia Syndrome
Sparse hair, Cataract, Ankle flexion contracture, Downslanted palpebral fissures, Elbow flexion c... OMIM:268300
Stickler Syndrome
Mitral valve prolapse, Epicanthus, Arrhythmia, Abnormal vitreous humor morphology, Retinal detach... ORPHA:828
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Cachexia, Weight loss, Abdominal distention, Abdominal pain ORPHA:83469
Cowden Syndrome 5
Cataract, Colonic diverticula, Subcutaneous lipoma, Goiter, Furrowed tongue, Angioid streaks of t... OMIM:615108
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Shallow orbits, Death in childhood OMIM:613848
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Fucosidosis
Cherry red spot of the macula, Tortuosity of conjunctival vessels, Thick eyebrow, Splenomegaly, C... OMIM:230000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Hypertrophic cardiomyopathy, Ptosis, Rod-cone dystrophy, Brittle hair, Tubulointerstiti... OMIM:124000
Gabriele-De Vries Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Patent foramen ovale, Ptosis, Lacrim... ORPHA:506358
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Facial hirsutism, Increased circul... OMIM:170100
Moebius Syndrome
Bifid uvula, Arthrogryposis multiplex congenita, Congenital fibrosis of extraocular muscles, Decr... OMIM:157900
Neonatal Inflammatory Skin And Bowel Disease
Horizontal eyebrow, Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermatitis, Perianal... ORPHA:294023
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Spontaneous pneumothorax, Upslanted palpebral fissure, Synophrys OMIM:618154
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Frontonasal Dysplasia 3
Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Cleft palate OMIM:613456
Klippel-Feil Syndrome 2, Autosomal Recessive
Low posterior hairline, Cleft palate, Ventricular septal defect OMIM:214300
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Glycine Encephalopathy With Normal Serum Glycine
Ptosis, Long eyelashes, Apnea, Respiratory failure OMIM:617301
Cenani-Lenz Syndrome
High, narrow palate, Cataract, Downslanted palpebral fissures, Abnormal dental enamel morphology,... ORPHA:3258
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Leukonychia, Nail dystrophy, Syncope, Ventricular tachycardia, Pruritus, ... OMIM:615821
Myasthenic Syndrome, Congenital, 21, Presynaptic
Ptosis, Apnea, Cyanosis, Respiratory insufficiency OMIM:617239
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
2Q32Q33 Microdeletion Syndrome
Fine hair, Downslanted palpebral fissures, Decreased testicular size, High palate, Sparse hair, C... ORPHA:251019
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Cachexia, Abdominal distention, Steatorrhea, ... ORPHA:75233
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, ... OMIM:300963
Bacterial Toxic-Shock Syndrome
Pneumonia, Respiratory distress, Respiratory tract infection, Ecchymosis, Tachypnea ORPHA:36234
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... ORPHA:3097
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Ventri... ORPHA:1166
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Cardiomyocyte hypertrophy, Congestive heart fai... OMIM:605676
Meier-Gorlin Syndrome 7
Thin eyebrow, Pulmonary hypoplasia OMIM:617063
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Short palpebral fissure, Velopharyngeal insufficiency, Upslanted palpebra... OMIM:613680
Pseudohypoparathyroidism Type 1B
Cataract, Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulati... ORPHA:94089
Liposarcoma
Abdominal pain, Weight loss, Nausea and vomiting ORPHA:69078
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair, Telecanthus, Upslanted palpebral fissure, Cryptorchidism, Microphthalmia ORPHA:228390
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Elevated circulating creatinine concentration... ORPHA:90038
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Ptosis, Impaired oropharyngeal swallow response, Corneal opacity, Hepa... OMIM:615273
Monosomy 22
Contractures of the large joints, Hepatosplenomegaly, Epicanthus, Aplasia of the thymus, Seborrhe... ORPHA:96123
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Telecanthus, Upslanted palpebral fissure, Hypoplastic toenails, Ventricular septa... OMIM:601927
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Trisomy X
Epicanthus, Upslanted palpebral fissure, Atrial septal defect, Ventricular septal defect ORPHA:3375
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Microphthalmia OMIM:602361
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... OMIM:613870
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Coarse hair, Knee flexion contracture, Hip contracture, Sparse hair OMIM:118650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:605711
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Neonatal death, Palmoplantar cutis laxa, Central apnea, Respiratory failure OMIM:616482
Candidiasis, Familial, 8
Seborrheic dermatitis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Pterygium, Neonatal death, Absent eyelash... OMIM:256520
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Weight loss OMIM:180300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at... OMIM:253280
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Bilateral cryptorchidism, ... OMIM:617403
Noonan Syndrome 13
Highly arched eyebrow, Gastroesophageal reflux, Hypertrichosis, Recurrent otitis media, Downslant... OMIM:619087
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Erythema nodosum, Panhypogammaglobulinemia OMIM:615214
3Mc Syndrome 1
Highly arched eyebrow, Supernumerary nipple, Downslanted palpebral fissures, Telecanthus, Diastas... OMIM:257920
Congenital Fibrosis Of Extraocular Muscles
Cataract, Congenital fibrosis of extraocular muscles, Abnormal pupil shape, Ptosis, Levator palpe... ORPHA:45358
Carpenter Syndrome
Abnormal cornea morphology, Cryptorchidism, Umbilical hernia ORPHA:65759
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... ORPHA:465508
Huntington Disease-Like 2
Weight loss OMIM:606438
Christianson Syndrome
Gastroesophageal reflux, Thick eyebrow, Cachexia, Feeding difficulties in infancy, Dysphagia ORPHA:85278
Cerebrotendinous Xanthomatosis
Cataract, Cholelithiasis, Pseudobulbar paralysis, Xanthelasma, Angina pectoris, Optic disc pallor... OMIM:213700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Hepatic failure, Increased circulating ferritin c... ORPHA:158057
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Phaver Syndrome
Downslanted palpebral fissures, Myelomeningocele, Pterygium, Camptodactyly of finger, Ventricular... ORPHA:2876
Townes-Brocks Syndrome
Cataract, Iris coloboma, Chorioretinal coloboma, Anteriorly placed anus, Tetralogy of Fallot, Abn... ORPHA:857
Craniolenticulosutural Dysplasia
Optic atrophy, Posterior Y-sutural cataract, Coarse hair, Gastroesophageal reflux, Bifid uvula, C... OMIM:607812
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy ORPHA:370997
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:620514
Q Fever
Pneumonia, Respiratory distress, Pleural effusion, Abnormal pulmonary interstitial morphology, Pu... ORPHA:781
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Dystonia-Deafness Syndrome 1
Cataract, Pseudobulbar paralysis, Achalasia, Dysphagia, Cleft palate OMIM:607371
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Ventricular septal defect,... ORPHA:505237
Mass Syndrome
Mitral valve prolapse OMIM:604308
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Ichthyosis, Congenital, Autosomal Recessive 6
Ectropion, Erythroderma OMIM:612281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec... OMIM:266200
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure OMIM:603689
Kyphoscoliotic Ehlers-Danlos Syndrome
Microcornea, Atypical scarring of skin, Subdural hemorrhage, Downslanted palpebral fissures, Umbi... ORPHA:536545
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Cutaneous abscess, Chron... OMIM:619752
Aase-Smith Syndrome I
Death in infancy, Ventricular septal defect, Ptosis, Flexion contracture, Cleft palate OMIM:147800
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Cataract, Arrhythmia, Abnormal dental enamel morphology ORPHA:2238
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Lambotte Syndrome
Telecanthus, Ocular anterior segment dysgenesis, Ventricular septal defect OMIM:245552
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Mitral valve prolap... OMIM:142900
Kabuki Syndrome 2
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse lateral eyebrow, Atriov... OMIM:300867
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Downslanted palpebral fissures, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:477817
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, T... ORPHA:163746
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, Telecanthus, Mitral valve prolapse, Downslanted palpebral fissures OMIM:615539
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Synovitis,... ORPHA:77297
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Protein-losing enteropathy, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Geleophysic Dysplasia 2
Aortic valve stenosis, Tricuspid stenosis, Mitral stenosis, Mitral valve prolapse OMIM:614185
Fliedner-Zweier Syndrome
Ventricular septal defect, Bicuspid aortic valve, Epicanthus, Anal atresia, Tracheoesophageal fis... OMIM:620511
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Microcornea, Intestinal malrotation, Telecanthus, Astigmatism, Upslanted palpebra... OMIM:244450
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhy... OMIM:249270
Cowden Syndrome 6
Cataract, Colonic diverticula, Subcutaneous lipoma, Goiter, Furrowed tongue, Angioid streaks of t... OMIM:615109
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Marshall Syndrome
Cataract, Bifid uvula, Vitreoretinopathy, Recurrent otitis media, Knee osteoarthritis, Epicanthus... OMIM:154780
Cryptococcosis
Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea ORPHA:1546
Fumarase Deficiency
Polycythemia OMIM:606812
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Weight loss ORPHA:54251
Eosinophilic Fasciitis
Myositis, Weight loss, Arthritis, Fasciitis ORPHA:3165
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Failure to thrive, Diarrhea, Vomiting, Inflamma... OMIM:610768
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Opacification of the corneal stroma OMIM:313400
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Dyspne... ORPHA:340
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Highly arched eyebrow, Fine hair, Downslanted palpebral fissures, Hepatosp... OMIM:613563
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Sparse eyebrow, Broad thumb, Toe syndactyly, Downslanted palpebral fissures, Upslanted palpebral ... OMIM:619720
Acute Radiation Syndrome
Cataract, Hypotension, Inflammatory abnormality of the skin, Interstitial pneumonitis, Telangiect... ORPHA:454831
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Deafness, X-Linked 7
Ptosis, Telecanthus, Thick eyebrow, Unilateral microphthalmos OMIM:301018
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Weight loss, Ab... ORPHA:309031
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Nail dystrophy OMIM:601957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Upslanted palpebral fissure, Nail dystrophy, Epicanthus, Atrial septal defect, Brittle ... ORPHA:93947
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Short palpebral fissure, Anteriorly placed anus, Tetralogy of Fallot, Astigmatism, U... OMIM:617159
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Rapp-Hodgkin Syndrome
Sparse hair, Bifid uvula, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumer... OMIM:129400
Distal Deletion 15Q
Upslanted palpebral fissure, Blepharophimosis, Pulmonary hypoplasia ORPHA:1596
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Chronic mucocutaneous candidiasis, Panh... ORPHA:79124
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, High palate ORPHA:2720
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Menkes Disease
Decreased circulating ceruloplasmin concentration, Alopecia, Sparse hair, Brittle hair OMIM:309400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis OMIM:618985
Classical Ehlers-Danlos Syndrome
Dermatochalasis, Abnormal cornea morphology, Gastroesophageal reflux, Cigarette-paper scars, Umbi... ORPHA:287
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Joubert Syndrome 22
Retinal dysplasia, Coloboma, Microphthalmia OMIM:615665
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Horizontal eyebrow, Downslanted palpebral fissures, Tetralogy of Fallot, ... OMIM:607872
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Generalized hirsutism, Epi... ORPHA:254346
Turnpenny-Fry Syndrome
Downslanted palpebral fissures, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal de... OMIM:618371
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Atrial septal defect, Ventricular ... OMIM:615996
Fraser Syndrome 3
Cryptophthalmos, Stillbirth, Abnormal lung lobation OMIM:617667
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Telecanthus, Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Laryngomalacia
Respiratory distress OMIM:150280
Van Esch-O'Driscoll Syndrome
Bifid uvula, Short palpebral fissure, Upslanted palpebral fissure, Ventricular septal defect, Tra... OMIM:301030
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Decreased liver function, Hyperammonemia, Elevated circulating creatine kinas... ORPHA:42
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te... OMIM:187300
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Subarachnoid hemorrhage, Premature graying of hair OMIM:277175
Cockayne Syndrome A
Sparse hair, Cataract, Optic atrophy, Dry hair, Pigmentary retinopathy, Retinal pigment epithelia... OMIM:216400
Scalp-Ear-Nipple Syndrome
Cataract, Breast aplasia, Abnormal fingernail morphology, Telecanthus, Pyelonephritis, Eyelid col... ORPHA:2036
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Peripheral pulmonary artery stenosis, Lumbar hypertrichosis, Tetralogy of Fa... ORPHA:163956
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hypoplastic toenails, Truncus arterio... OMIM:616589
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Optic atrophy, Sparse eyebrow, Fine hair, Downslanted palpebral fissures, S... ORPHA:261349
Griscelli Syndrome Type 2
Iris hypopigmentation, Premature graying of hair, Partial albinism, Splenomegaly, Hepatomegaly, H... ORPHA:79477
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Eyelid coloboma, Chilblains, Multiple joint cont... ORPHA:51
ERI1-related disease
Velopharyngeal insufficiency, Abnormal heart morphology, Tricuspid regurgitation, Upslanted palpe... OMIM:608739
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Cataract, Aortic regurgitation, Abnormal optic chiasm morphology, Gastroes... ORPHA:268261
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Bilateral microphthalmos, Abnormal hair morphology, Telecanthus, Eyelid colo... OMIM:607597
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Failure to thrive, Feeding difficulties in infancy, Brittle hair, Abnormality of hai... OMIM:219200
19P13.3 Microduplication Syndrome
Gastroesophageal reflux, Downslanted palpebral fissures, Telecanthus, Upslanted palpebral fissure... ORPHA:447980
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypertrichosis, Patent foramen ovale, Ventricular septal defect, Broad eyebrow, Narrow palpebral ... OMIM:620113
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Skin rash, Arthritis, Erythema nodosum, Elevated circulating C-rea... OMIM:611762
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Overriding aorta, Omphalocele, Microphthalmia, Cyclopia,... ORPHA:3186
Good Syndrome
Dyspnea, Recurrent respiratory infections, Ptosis, Bronchiectasis ORPHA:169105
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Downslanted palpebral fissures, Tetralogy of Fallot, Ventricular septal d... ORPHA:1727
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Alagille Syndrome 1
Cataract, Microcornea, Band keratopathy, Pigmentary retinopathy, Tetralogy of Fallot, Axenfeld an... OMIM:118450
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Loeys-Dietz Syndrome 2
Patent foramen ovale, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Absent distal... OMIM:610168
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Retinal vasculitis, Scleritis, Retinal detachment, I... OMIM:107320
Congenital Disorder Of Glycosylation, Type If
Optic atrophy, Flexion contracture, Erythroderma OMIM:609180
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Epicanthus, Sparse eyebrow, Downslanted palpebral fissures OMIM:606164
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe... ORPHA:100082
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Downslanted palpebral fissures, Ventricular septal defect, Absent eyelashes... ORPHA:166035
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Secundum atrial septal defect, Chronic mucocutaneous candidiasis, Molluscum ... OMIM:614868
Tetrasomy 12P
Sparse eyebrow, Cachexia, Abnormal soft palate morphology, Anal atresia, Sparse hair ORPHA:884
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Short Stature And Facioauriculothoracic Malformations
High palate, Ptosis, Cleft palate, Ventricular septal defect OMIM:609654
Chand Syndrome
Bifid tongue, Nail dysplasia, Cleft palate, Curly hair ORPHA:1401
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Weight loss, Glomerulonephritis, Decreased ci... ORPHA:99867
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, High palate, F... ORPHA:90153
Bohring-Opitz Syndrome
Gastroesophageal reflux, Hypertrichosis, Supernumerary nipple, Intestinal malrotation, Upslanted ... OMIM:605039
Mednik Syndrome
Cataract, Microcolon, Volvulus, Upslanted palpebral fissure, Jejunal atresia OMIM:609313
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal... ORPHA:49827
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Epicanthus, Hepatomegaly, Hypopigmentation of hair, C... OMIM:618541
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Hall-Riggs Syndrome
Coarse hair, Failure to thrive, Nausea and vomiting, Thick hair, Slow-growing hair ORPHA:2107
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair, Abnormal dental enamel morphology, Epicanthus, Ptosis, Blepharophimosis ORPHA:3236
Leprosy
Corneal perforation, Alopecia, Epistaxis, Testicular mass, Uveitis, Sparse body hair, Paralytic l... ORPHA:548
Cogan Syndrome
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Scleritis, In... ORPHA:1467
Polymyositis
Gastrointestinal hemorrhage, Gastroesophageal reflux, Elevated circulating creatine kinase concen... ORPHA:732
Rat-Bite Fever
Diarrhea, Vomiting, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pus... ORPHA:31205
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Small nail, Villo... OMIM:601110
Graft Versus Host Disease
Pneumonia, Vomiting, Diarrhea, Failure to thrive, Inflammatory abnormality of the skin, Fasciitis... ORPHA:39812
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Irregular respiration, Ey... ORPHA:79139
Apert Syndrome
Optic atrophy, Bifid uvula, Downslanted palpebral fissures, Ectopic anus, Cleft palate, Esophagea... ORPHA:87
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal hair morphology, Cryptorchidism, Upslanted palpebral fissure, Hernia of the abdominal wa... ORPHA:3082
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Cleft palate, Ventricular septal defect OMIM:601355
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Joint contracture of the hand, Fine hair, Downslanted palpebral fis... OMIM:305450
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Aborted sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Recurrent otitis me... OMIM:614921
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Increased body weight, Pruritis on h... ORPHA:64745
Braddock-Carey Syndrome 2
Microphthalmia, Cleft palate, Downslanted palpebral fissures OMIM:619981
Pemphigus Vulgaris
Alopecia of scalp, Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess form... ORPHA:704
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Macroglossia, Achalasia, Dysphagia ORPHA:79107
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Death in childhood... OMIM:612938
14Q22Q23 Microdeletion Syndrome
Downslanted palpebral fissures, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Epicanthus, Pt... ORPHA:264200
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Respiratory distress, Pneumothorax, Fragile skin, Dyspnea, Respiratory failure ORPHA:79404
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Short palpebral fissure, Upslanted palpebral fissure, Mitral valve prolapse... OMIM:611962
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Death in infancy, Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Right atrial enlargement, Mitral valve prolapse, Bilateral ptosis ORPHA:555877
Restrictive Dermopathy
Short palpebral fissure, Sparse eyebrow, Downslanted palpebral fissures, Telecanthus, Sparse or a... ORPHA:1662
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Ptosis, Arthritis, High palate OMIM:259100
Frontonasal Dysplasia 2
Short palpebral fissure, Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, T... OMIM:613451
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Chorioretinal coloboma, Ventricular septal defect, Epicanthus, Hep... OMIM:280000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Emphysema, Tachypnea, Abnormal pulmonary interstitial morphology, Resp... OMIM:613658
Classic Hodgkin Lymphoma
Poor appetite, Weight loss, Skin rash, Anorexia ORPHA:391
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... ORPHA:91416
Kenny-Caffey Syndrome, Type 2
Papilledema, Developmental cataract, Microphthalmia, Hypoparathyroidism, Retinal calcification OMIM:127000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Sinus bradycardia, Ventricular septal defect OMIM:126320
Intellectual Developmental Disorder, Autosomal Dominant 53
Downslanted palpebral fissures, Intestinal malrotation, Frontal upsweep of hair, Ventricular sept... OMIM:617798
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon, Downslanted palpebral fissures ORPHA:1438
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Pancolitis, Eosinophilic... OMIM:618213
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Coarse hair, Ankyloblepharon, Dystrophic toenail, Supernumerary nipple, Hyperconv... ORPHA:1071
Meier-Gorlin Syndrome 1
Short palpebral fissure, Respiratory distress, Emphysema, Long eyelashes, Death in infancy, Bleph... OMIM:224690
Char Syndrome
Downslanted palpebral fissures, Ptosis, Ventricular septal defect, Supernumerary nipple ORPHA:46627
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Eczematoid dermatitis, Congestive heart failure, Tricuspid regurgitation, Noncompaction... ORPHA:508542
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Van Den Ende-Gupta Syndrome
High, narrow palate, Joint contracture of the hand, Camptodactyly of 2nd-5th fingers, Elbow flexi... OMIM:600920
Adult-Onset Still Disease
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... ORPHA:829
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Ptosis, Amylo... OMIM:105210
X-Linked Intellectual Disability, Armfield Type
Cataract, Downslanted palpebral fissures, Cryptorchidism, Inguinal hernia, Epicanthus, Abnormal c... ORPHA:85276
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Plague
Inflammation of the large intestine, Lymphadenitis, Ileitis, Arrhythmia, Acute infectious pneumon... ORPHA:707
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short palpebral fissure, Telecanthus, Upslanted palpebral fissure, Ventricular septal defect, Hir... OMIM:620073
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Filippi Syndrome
Small nail, Downslanted palpebral fissures, Supernumerary nipple, Ventricular septal defect, Apla... ORPHA:3255
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Increa... OMIM:619377
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Erythroderma OMIM:620150
Omenn Syndrome
Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Hepatomegaly OMIM:603554
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mgat2-Cdg
Respiratory distress, Downslanted palpebral fissures, Long eyelashes, Recurrent upper and lower r... ORPHA:79329
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Juvenile Dermatomyositis
Alopecia, Gastrointestinal hemorrhage, Skin rash, Elevated circulating creatine kinase concentrat... ORPHA:93672
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Kleefstra Syndrome
Highly arched eyebrow, Pyloric stenosis, Gastroesophageal reflux, Supernumerary nipple, Tetralogy... ORPHA:261494
Pelger-Huet Anomaly
Eczematoid dermatitis, Umbilical hernia, Recurrent otitis media, Median cleft palate, Foot dorsif... OMIM:169400
Takayasu Arteritis
Gastrointestinal infarctions, Increased inflammatory response, Weight loss, Arthritis, Anorexia, ... ORPHA:3287
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Telecanthus OMIM:617102
Mucopolysaccharidosis, Type Iiid
Macroglossia, Coarse hair, Recurrent otitis media, Facial hirsutism, Elbow flexion contracture, T... OMIM:252940
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Diarrhea, Failure to thrive, Chronic mucocutaneous ca... ORPHA:276
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Geleophysic Dysplasia 1
Aortic valve stenosis, Cone-shaped epiphysis, Short metacarpals with rounded proximal ends, Campt... OMIM:231050
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Chronic sinusitis, Cardiomegal... OMIM:620642
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ventricular septal defect, Low posterior hairline, High palate, ... OMIM:122470
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Downslanted palpebral fissures, Cryptorchidism, Low posterior hair... OMIM:601321
Congenital Heart Defects And Skeletal Malformations Syndrome
Intestinal malrotation, Upslanted palpebral fissure, Congenital diaphragmatic hernia, Ventricular... OMIM:617602
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia ORPHA:309854
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal hair morphology, Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Pseudo-Torch Syndrome 3
Lymphadenitis, Death in infancy, Cardiomegaly, Cerebral hemorrhage, Hypertension OMIM:618886
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Exertional dyspnea, Orthopnea, Dyspnea, Respiratory failure ORPHA:563
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Alopecia, Small nail, Supernumerary nipple, Tetral... OMIM:100300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus OMIM:603776
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis, Downslanted palpebral fissures OMIM:212780
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Coarse hair, Brittle hair, High palate, Sparse hair ORPHA:50814
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Small nail, Elbow flexion contracture, Upslanted palpebral fissure, Hip contracture, Knee flexion... OMIM:300868
Genitopalatocardiac Syndrome
Cleft palate, Transposition of the great arteries, Double outlet right ventricle, Ventricular sep... OMIM:231060
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Hirsutism, Cardiac myxoma, Freckling, Red hair, Pr... OMIM:160980
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Congestive heart failure, Gastrointe... ORPHA:727
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Splenomegaly, Increased stool urobilinogen concen... ORPHA:79277
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Bifid uvula, Long eyelashes, Thick eyebrow, Submucous cleft hard palate, E... OMIM:617412
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Sneddon Syndrome
Bicuspid aortic valve OMIM:182410
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Long eyelashes, Telecanthus, Epicanthus, Conjunctivitis, Recurrent respirat... ORPHA:505248
Kawasaki Disease
Vasculitis, Strawberry tongue, Abnormality of nail color, Double outlet right ventricle with subp... ORPHA:2331
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... ORPHA:261243
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Apnea, Upslanted palpebral fissure, Death in infancy, Cyanosis, Ptosis... OMIM:252010
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Flexion contracture, Situs inversus totalis, Optic nerve hypoplasia OMIM:614833
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Epicant... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Epicant... ORPHA:363958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec... OMIM:603387
Craniofacial Microsomia 1
Tetralogy of Fallot, Anophthalmia, Ventricular septal defect, Upper eyelid coloboma, Ptosis, Blep... OMIM:164210
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Pustular rash, Malar rash, Nail dystrophy, Skin rash, Pustule, Myositis, Incre... OMIM:615934
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Frontometaphyseal Dysplasia
Bifid uvula, Joint contracture of the hand, Abnormal cornea morphology, Keloids, Interphalangeal ... ORPHA:1826
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Camptodactyly, Cleft palate, Lobulated tongue OMIM:614815
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Hypoplastic fifth fingernail, Cryptorchidism, Congenital diaphra... OMIM:135900
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Sinusitis, ... OMIM:608710
Hypercholesterolemia, Familial, 1
Xanthelasma, Corneal arcus OMIM:143890
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Short palpebral fissure, Respiratory distress, Telecanthus, Ptosis... OMIM:217980
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Cryptorchidism, Low posterior hairline, Epicanthus, Hernia, ... ORPHA:1912
Olmsted Syndrome 2
Cheilitis, Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Lujo Hemorrhagic Fever
Respiratory distress, Purpura, Atelectasis, Ecchymosis ORPHA:319213
Dermatomyositis
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Acrocyanosis, Lung adenocarcinoma, Facia... ORPHA:221
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Tetralogy of Fallot, Mitral regurgitation, Mitral valve pro... OMIM:612561
Gorlin Syndrome
Cataract, Telecanthus, Cryptorchidism, Cardiac fibroma, Epicanthus, Ovarian fibroma, Iris coloboma ORPHA:377
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Downslanted palpebral fissures, Perimembranous ventricular septal defect, Transposition of the gr... OMIM:617877
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Optic disc coloboma, Downslanted palpebral fissures, Ventricula... OMIM:300472
Bronchogenic Cyst
Pneumonia, Abnormal pericardium morphology, Abnormal stomach morphology, Abnormal esophagus morph... ORPHA:2357
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormality of the ovary, Facial hirsutism, Obesity, Thi... ORPHA:247768
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Fine hair, Downslanted palpebral fissures, Dorsocervical fat pad, Low anterior hairline, Epicanth... ORPHA:391408
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Acrocyanosis OMIM:614407
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Fine hair, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Sparse hair OMIM:616817
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Protrac... ORPHA:572
Fragile X Syndrome
Gastroesophageal reflux, Otitis media, Mitral valve prolapse, Sinusitis, Macroorchidism, Chronic ... ORPHA:908
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Decreased muscle mass, Downslanted palpebral fissures, Abnormal heart... ORPHA:2953
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Sparse lateral eyebrow, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa, Nail dystrophy... OMIM:617337
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Holoprosencephaly 7
Bilateral microphthalmos, Panhypopituitarism, Median cleft palate, Upslanted palpebral fissure, B... OMIM:610828
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Hypoactive bowel sounds, Protracted diarrhea, Bowel urgency, Weight... ORPHA:100080
Cowden Syndrome 1
Cataract, Colonic diverticula, Subcutaneous lipoma, Goiter, Furrowed tongue, Angioid streaks of t... OMIM:158350
Huntington Disease
Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased... ORPHA:399
Arboleda-Tham Syndrome
Recurrent otitis media, Ventricular septal defect, Epicanthus, Atrial septal defect, Dysphagia, C... OMIM:616268
Neu-Laxova Syndrome 2
Ablepharon, Cataract, High palate, Cleft palate OMIM:616038
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Atrioventricular canal defect, F... ORPHA:453499
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Downslanted palpebral fissur... OMIM:300048
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Umbilical hernia, Tetralogy of Fallot, Submucous cleft hard palate,... OMIM:192430
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cataract, Pneumonia, Gastroesophageal reflux, Keloids, Abnormal heart morp... ORPHA:353281
Marfan Syndrome
Tricuspid valve prolapse, Mitral valve calcification, Mitral valve prolapse, Downslanted palpebra... ORPHA:558
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Intestinal malrotation, Ventricular septal defect, Epicanthus, Ptosis, A... ORPHA:457193
Mcdonough Syndrome
Cachexia, Synophrys ORPHA:2471
Alfadhel Syndrome
Highly arched eyebrow, Nasal flaring OMIM:620655
Harderoporphyria
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:618892
Frank-Ter Haar Syndrome
Acne, Mitral valve prolapse, Downslanted palpebral fissures ORPHA:137834
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Hyphema, Iritis, Blepharitis, Uveitis ORPHA:158000
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Alopecia, Hypotriglyceridemia, Pneumonia, Abnormal circulating lipid ... ORPHA:2298
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Ectopia pupillae, Recurrent otitis media, Axenfeld anomaly, Crypt... ORPHA:261552
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cataract, Umbilical hernia, Hypertrophic cardiomyopathy, Cryptorchidism, Inguinal hernia, Arrhyth... OMIM:614052
Transaldolase Deficiency
Hepatosplenomegaly, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Telangiectasia... OMIM:606003
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Umbilical hernia, Abnorm... OMIM:618164
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract OMIM:146200
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Ventricular septal defect OMIM:619083
Mandibulofacial Dysostosis, Guion-Almeida Type
Downslanted palpebral fissures, Telecanthus, Upslanted palpebral fissure, Ventricular septal defe... OMIM:610536
Juvenile Huntington Disease
Weight loss ORPHA:248111
Meckel Syndrome, Type 1
Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, Splenomegaly, Ptosis, Abnormal c... OMIM:249000
Dysbetalipoproteinemia
Acute pancreatitis, Xanthelasma, Gout, Angina pectoris, Hepatomegaly, Corneal arcus ORPHA:412
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Chronic Graft Versus Host Disease
Alopecia, Gastroesophageal reflux, Xerostomia, Urinary bladder inflammation, Fasciitis, Abnormal ... ORPHA:99921
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Warsaw Breakage Syndrome
Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect, Epicanthus, High palate, Hyp... OMIM:613398
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... OMIM:619445
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Follicular Lymphoma
Weight loss ORPHA:545
Cornelia De Lange Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Generalized hirsutism... ORPHA:199
Hughes-Stovin Syndrome
Dyspnea, Pulmonary artery aneurysm, Cardiorespiratory arrest ORPHA:228116
Leptospirosis
Hypotension, Uveitis, Hepatitis, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis,... ORPHA:509
Dextrocardia
Meckel diverticulum, Abnormal lung lobation, Abnormal heart morphology, Intestinal malrotation, A... ORPHA:1666
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Atopic dermatitis, Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittl... OMIM:225060
Alzahrani-Kuwahara Syndrome
Cataract, Coronary sinus enlargement, Eczematoid dermatitis, Astigmatism, Patent foramen ovale, V... OMIM:619268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Telecanthus, Upslanted palpebral fissure, Epicanthus, Long palpebral fissure ORPHA:438216
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Death in infancy, Epicanthus, Ptosis, Severe photosensitivity, Pulmonary ... OMIM:270400
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Autosomal Recessive Robinow Syndrome
Ankyloglossia, Ventricular septal defect, Epicanthus, Atrial septal defect, Chronic otitis media,... ORPHA:1507
Marshall-Smith Syndrome
Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Premature ventricular contractio... OMIM:602535
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Mast Cell Sarcoma
Weight loss ORPHA:66661
Opitz Gbbb Syndrome
Gastroesophageal reflux, Umbilical hernia, Rectourethral fistula, Telecanthus, Ventricular septal... OMIM:300000
Bullous Pemphigoid
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Pemphigus Foliaceus
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus ORPHA:79481
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Witteveen-Kolk Syndrome
Glue ear, Congenital diaphragmatic hernia, Epicanthus, Microphthalmia, High palate, Iris coloboma... OMIM:613406
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyebrow, High anterior hairline, Small nail, Downslanted palpebral fissures, Ventricular s... OMIM:250410
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Gastroesophageal reflux, Bronchiectasi... ORPHA:443811
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Downslanted palpebral fissures, Ventricular septal defect ORPHA:2256
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus OMIM:144010
Graves Disease
Onycholysis, Weight loss OMIM:275000
Sotos Syndrome
High, narrow palate, Narrow palate, Sparse eyebrow, High anterior hairline, Gastroesophageal refl... OMIM:117550
Cadds
Cataract, Cholangitis ORPHA:369942
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency due to muscle weakness OMIM:310200
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombocytosis ORPHA:324636
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... OMIM:617201
Non-Functioning Paraganglioma
Episodic abdominal pain, Weight loss, Hypercalcemia, Nausea ORPHA:94080
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Nausea and vomiting, Failure to thrive, Weight loss ORPHA:1842
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short palpebral fissure, Pulmonary artery stenosis, Epicanthus, Blepharophimosis, Miscarriage, Re... ORPHA:96334
Macrocephaly/Autism Syndrome
Coarse hair, Recurrent otitis media, Obesity, Large for gestational age, High palate, Decreased c... OMIM:605309
Cardiofacioneurodevelopmental Syndrome
Aplasia/Hypoplasia of the nails, Atrioventricular canal defect, Upslanted palpebral fissure, Cryp... OMIM:619123
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Gastroesophageal reflux, Foot joint contracture, Anal fissure, Ankyloglos... ORPHA:79408
Cocaine Intoxication
Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Tachypnea, Pneumothorax, Hype... ORPHA:90068
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, High palate, Microphthalmia OMIM:619053
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair, Downslanted palpebral fissures, Decreased testicular size, Cryptorchidism... ORPHA:251028
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Long eyelashes, Mitral stenosis, Death in infancy, ... ORPHA:2008
Immunodeficiency 12
Esophageal stricture, Recurrent aphthous stomatitis, Complete or near-complete absence of specifi... OMIM:615468
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Eczematoid dermati... ORPHA:238468
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Umbilical hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly,... OMIM:618143
Heart And Brain Malformation Syndrome
High, narrow palate, Gastroesophageal reflux, Camptodactyly of finger, Ventricular septal defect,... OMIM:616920
Diamond-Blackfan Anemia 21
Aortic regurgitation, Coarse hair, Secundum atrial septal defect, Horizontal eyebrow, Downslanted... OMIM:620072
Lysinuric Protein Intolerance
Diarrhea, Intraalveolar phospholipid accumulation, Vomiting, Fine hair, Increased circulating fer... OMIM:222700
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Downslanted palpebral fissures, Ventricular septal defect, High palate, Iris... ORPHA:52055
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Feingold Syndrome 1
Short palpebral fissure, Upslanted palpebral fissure, Ventricular septal defect, Epicanthus, Blep... OMIM:164280
Feingold Syndrome Type 1
Short palpebral fissure, Toe syndactyly, Short thumb, Abnormal heart morphology, Short middle pha... ORPHA:391641
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss, Skin rash ORPHA:33276
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Intellectual Developmental Disorder, Autosomal Dominant 43
Upslanted palpebral fissure, Pulmonic stenosis, Synophrys OMIM:616977
Cystinosis, Adult Nonnephropathic
Corneal crystals, Abnormal retinal morphology OMIM:219750
Trisomy 8P
Bifid uvula, Recurrent upper respiratory tract infections, Peripheral pulmonary artery stenosis, ... ORPHA:264450
Cranioectodermal Dysplasia 1
High, narrow palate, Short nail, Fine hair, Telecanthus, Inguinal hernia, Bicuspid aortic valve, ... OMIM:218330
Holoprosencephaly 2
Anterior pituitary agenesis, Bifid uvula, Chorioretinal coloboma, Median cleft palate, Submucous ... OMIM:157170
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:2753
Grange Syndrome
Finger clinodactyly, Coronary artery stenosis, Bicuspid aortic valve, Brachydactyly, Syndactyly OMIM:602531
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Fraser Syndrome
Lacrimal duct aplasia, Abnormal lung lobation, Cryptophthalmos, Death in infancy, Malformed lacri... ORPHA:2052
Bohring-Opitz Syndrome
Optic atrophy, Cholelithiasis, Annular pancreas, Congenital contracture, Hypertrichosis, Cardiome... ORPHA:97297
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Coloboma, Anterior encephalocele, Ventricular septal defect OMIM:601357
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Shallow orbits, Pulmonary hypoplasia ORPHA:798
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Gastroesophageal reflux, Fine hair, Downslanted palpebral fissures, Long eyelashes, Upslanted pal... OMIM:620250
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon, Cachexia, Constipation, Abnormal circulating creatine concentration ORPHA:52503
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Smooth ton... OMIM:257980
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Trisomy 20P
Highly arched eyebrow, Coarse hair, Downslanted palpebral fissures, Camptodactyly of finger, Umbi... ORPHA:261318
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Keloids, Downslanted palpebral fissures, Elbow contracture,... OMIM:617137
Epidermodysplasia Verruciformis
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cataract, Bifid uvula, Downslanted palpebral fissures, Submucous cleft hard palate, Patent forame... OMIM:300990
Tarp Syndrome
Short palpebral fissure, Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Neonatal ... OMIM:311900
Myopathy With Extrapyramidal Signs
Splenomegaly, Ventricular septal defect, Epicanthus, Ptosis, Calf muscle hypertrophy, Hepatomegaly OMIM:615673
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Perry Syndrome
Weight loss ORPHA:178509
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Recurrent otitis media, Axenfeld anomaly, Cryptorchidism, Bicuspid aortic ... ORPHA:261537
Dyskeratosis Congenita, X-Linked
Cataract, Alopecia, Optic atrophy, Oral leukoplakia, Premature graying of hair, Pterygium, Decrea... OMIM:305000
Hajdu-Cheney Syndrome
Short nail, Umbilical hernia, Intestinal malrotation, Downslanted palpebral fissures, Long eyelas... OMIM:102500
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Anterior uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, ... ORPHA:85436
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventricular septal d... ORPHA:1926
Opitz Gbbb Syndrome
Umbilical hernia, Abnormal heart morphology, Ankyloglossia, Downslanted palpebral fissures, Telec... ORPHA:2745
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Pleural effusion, Splenomegaly, Limb muscle weakness, Shortened ... OMIM:232300
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Highly arched eyebrow, Aortic regurgitation, Branchial fistula, Camptodactyl... ORPHA:261330
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Pruritus, Interface hepatitis, Sclerosing cholangitis, Granu... ORPHA:562639
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/Hypoplasia of the nails, Total anomalous pulmonary venous return, Popliteal pterygium, Cr... OMIM:609945
Werner Syndrome
Cataract, Alopecia of scalp, Retinal degeneration OMIM:277700
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Prominent eyelashes, Small nail, Hypertrichosis, Ab... ORPHA:1465
Interstitial Granulomatous Dermatitis With Arthritis
Elevated circulating C-reactive protein concentration, Pruritus, Rheumatoid arthritis, Inflammato... ORPHA:79099
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Chemosis, Elevated circulating C-reactiv... OMIM:614034
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... ORPHA:2306
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b... OMIM:194380
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Ptosis, Recurrent respiratory infections, Apnea ORPHA:17
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Downslanted palpebral fissures, Elbow contracture, Elbow flexion contracture... OMIM:178110
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Epicanthus, Atrial septal defect, Microphthalmia, Anal atresia OMIM:610832
Osteogenesis Imperfecta
Aortic regurgitation, Dentinogenesis imperfecta, Umbilical hernia, Abnormal dental enamel morphol... ORPHA:666
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive OMIM:619693
Cooper-Jabs Syndrome
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic herni... ORPHA:1488
Immunodeficiency 17
Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Chronic decreased circulating IgG2... OMIM:615607
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure OMIM:617248
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve OMIM:619825
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Muenke Syndrome
High, narrow palate, Hypopigmented skin patches, Ptosis, Hypopigmentation of hair, Hypermelanotic... ORPHA:53271
Duane Retraction Syndrome
Blepharospasm, Microcornea, Short palpebral fissure, Skeletal muscle atrophy, Hypopigmented skin ... ORPHA:233
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Jaundice, Abnormal lung morphology, Respiratory ... ORPHA:646
Coffin-Siris Syndrome 4
Macroglossia, Hypertrichosis, Mitral atresia, Long eyelashes, Thick eyebrow, Ventricular septal d... OMIM:614609
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Ventricular septal defect, Epicanthus, Pulmonary arterial hypertension, Atr... ORPHA:2519
Nephroblastoma
Abdominal pain, Neoplasm of the liver, Weight loss ORPHA:654
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Gastroesophageal reflux, Flexion contracture, Ventricular septal ... ORPHA:79243
Primary Sclerosing Cholangitis
Hypoalbuminemia, Cholelithiasis, Uveitis, Hepatitis, Celiac disease, Pruritus, Acute hepatic fail... ORPHA:171
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Orofaciodigital Syndrome V
Bifid uvula, Optic disc coloboma, Downslanted palpebral fissures, Tetralogy of Fallot, Ankyloglos... OMIM:174300
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexia, Anorexia, Abdominal pain... ORPHA:2552
Systemic Capillary Leak Syndrome
Diarrhea, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis ORPHA:188
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration OMIM:604377
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Weight loss, Inflammatory abnormality of the eye, Abdominal pain, Panniculitis ORPHA:33577
Central Core Disease
Abnormal circulating creatine kinase concentration, Mitral valve prolapse, Elevated circulating c... ORPHA:597
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy of Fallot, Patent forame... OMIM:600001
Ohdo Syndrome, X-Linked
Sparse eyebrow, High anterior hairline, Downslanted palpebral fissures, Cryptorchidism, Inguinal ... OMIM:300895
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Coloboma, Cleft palate OMIM:615583
Majeed Syndrome
Skin rash, Osteomyelitis, Inflammatory abnormality of the skin, Failure to thrive OMIM:609628
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor... ORPHA:440437
1P36 Deletion Syndrome
Cataract, Optic atrophy, Dilated cardiomyopathy, Horizontal eyebrow, Annular pancreas, Gastroesop... ORPHA:1606
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Downslanted palpebral fissures, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal... OMIM:618870
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Treacher Collins Syndrome 1
Preauricular hair displacement, Bilateral microphthalmos, Downslanted palpebral fissures, Abnorma... OMIM:154500
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Inguinal hernia, Cleft palate, Microphthalmia ORPHA:1135
Constricting Bands, Congenital
Eyelid coloboma, Abnormal lung lobation OMIM:217100
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Cardiomyopathy, Elevated... ORPHA:48435
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis, Acne, Seborrheic dermatitis OMIM:167100
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Colon cancer, Exocrine pancreatic insufficiency, Nausea and vomiti... ORPHA:1333
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no... OMIM:300967
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Small nail, Pterygium, Esophageal stricture, Pterygium of nails, Nail dystrophy... OMIM:224230
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Developmental And Epileptic Encephalopathy 1
Dysphagia, Microphthalmia OMIM:308350
Recombinant 8 Syndrome
Camptodactyly of finger, Abnormal hair morphology, Tetralogy of Fallot, Ventricular septal defect... ORPHA:96167
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Hyperlipidemia, ... ORPHA:79259
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Failure to thrive... OMIM:102700
Late-Onset Isolated Acth Deficiency
Diarrhea, Hepatitis, Celiac disease, Failure to thrive, Nausea and vomiting, Hyperuricemia, Hypon... ORPHA:199299
Monosomy 13Q34
Horizontal eyebrow, Downslanted palpebral fissures, Epicanthus, Common atrium, Pulmonic stenosis ORPHA:96168
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Ocular albi... OMIM:214500
Solitary Fibrous Tumor
Hypophosphatemic rickets, Neoplasm of the liver, Weight loss, Reduced C-peptide level, Constipation ORPHA:2126
Peripheral Primitive Neuroectodermal Tumor
Abdominal distention, Elevated carcinoma antigen 125 level, Nausea and vomiting, Episodic abdomin... ORPHA:370348
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Death in childhood, Cardiomegaly, Orthostatic hypote... OMIM:268800
Obesity And Hypopigmentation
Red hair OMIM:620195
Cohen Syndrome
High, narrow palate, Downslanted palpebral fissures, Decreased response to growth hormone stimula... OMIM:216550
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Roberts Syndrome
Cataract, Cryptorchidism, Knee flexion contracture, Wrist flexion contracture, Progressive flexio... ORPHA:3103
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Autosomal Recessive Cutis Laxa Type 1
Dermatochalasis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticu... ORPHA:90349
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Xerostomia, Oral-pharyngeal dysphagia, Intestinal perforati... ORPHA:95455
Bardet-Biedl Syndrome
Inflammation of the large intestine, Cryptorchidism, Polycystic ovaries, Generalized hirsutism, C... ORPHA:110
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Noonan Syndrome With Multiple Lentigines
Webbed neck, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth reta... ORPHA:500
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Increased circulating an... ORPHA:85443
Mowat-Wilson Syndrome
Aortic valve stenosis, Recurrent otitis media, Axenfeld anomaly, Cryptorchidism, Bicuspid aortic ... ORPHA:2152
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Weight loss, Anor... ORPHA:98850
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Central hypoventilation, ... ORPHA:293987
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Upslanted palpebral fissure, Almond-shape... ORPHA:177907
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Polysyndactyly With Cardiac Malformation
Small nail, Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Orofaciodigital Syndrome I
Alopecia, Dry hair, Downslanted palpebral fissures, Abnormal heart morphology, Pancreatic cysts, ... OMIM:311200
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Spinocerebellar Ataxia-Dysmorphism Syndrome
Ptosis, Epicanthus, Coarse hair, Optic atrophy ORPHA:1185
American Trypanosomiasis
Diarrhea, Cardiomyopathy, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, M... ORPHA:3386
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties OMIM:616801
Dravet Syndrome
Cyanotic episode ORPHA:33069
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Alopecia totalis, Ventricular septal defect, Persistent fetal circul... OMIM:618775
Loeys-Dietz Syndrome 5
Bifid uvula, Decreased muscle mass, Downslanted palpebral fissures, Cleft soft palate, Mitral reg... OMIM:615582
Castleman Disease
Increased circulating interleukin 6 concentration, Nausea and vomiting, Intestinal obstruction, A... ORPHA:160
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Genu valgum, Ventricular septal defect, Flattened... OMIM:143095
Waardenburg Syndrome, Type 1
Premature graying of hair, Myelomeningocele, Partial albinism, Telecanthus, Thick eyebrow, White ... OMIM:193500
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Immunodeficiency 31C
Protein-losing enteropathy, Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous... OMIM:614162
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Seckel Syndrome 9
Pulmonary artery hypoplasia, Hypertrichosis, Congenital diaphragmatic hernia, Ventricular septal ... OMIM:616777
Felty Syndrome
Recurrent pneumonia, Episcleritis, Synovitis, Weight loss, Arthritis, Sinusitis, Rhinitis, Chroni... ORPHA:47612
Caroli Disease
Cholelithiasis, Conjunctival icterus, Portal hypertension, Splenomegaly, Cholangiocarcinoma, Hepa... ORPHA:53035
Meckel Syndrome, Type 4
Ventricular septal defect, Atrial septal defect, Microphthalmia, Bile duct proliferation, Cleft p... OMIM:611134
Microphthalmia With Limb Anomalies
Optic atrophy, Camptodactyly of 2nd-5th fingers, Abnormal eyebrow morphology, True anophthalmia, ... ORPHA:1106
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Juve... ORPHA:85414
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Acrogeria
Telangiectasia of the skin, Lipoatrophy, Fine hair ORPHA:2500
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Zollinge... ORPHA:100075
Tetrasomy 9P
Epicanthus, Downslanted palpebral fissures, Jaundice, Pulmonary hypoplasia ORPHA:3310
Adnp Syndrome
Recurrent upper respiratory tract infections, Bilateral ptosis, Respiratory distress, Long palpeb... ORPHA:404448
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Lissencephaly 9 With Complex Brainstem Malformation
Epicanthus, Dysphagia, Ventricular septal defect OMIM:618325
Psoriasis 14, Pustular
Furrowed tongue, Psoriasiform dermatitis, Nail dystrophy, Pustule, Oligoarthritis, Geographic ton... OMIM:614204
B4Galt1-Cdg
Inflammatory abnormality of the skin, Diarrhea, Small for gestational age, Elevated circulating c... ORPHA:79332
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Bilateral ptosis, Mitral valve prolapse, Elevated circulating creatine kinase con... OMIM:258450
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Nail dystrop... OMIM:604173
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Death in infancy, Ventricular septal defect, Hepatomegaly, Arthrogryposis m... OMIM:613404
Pearson Syndrome
Cataract, Pigmentary retinopathy, Cardiomyopathy, Abnormal heart morphology, Decreased response t... ORPHA:699
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Erythroderma OMIM:617425
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Respiratory insufficiency, Epicanthus, Pulmonary hypoplasia ORPHA:93271
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs ORPHA:887
Uremic Pruritus
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormal circulating cytokine co... ORPHA:94059
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Glomerulonephritis, Fine hair, Synophrys OMIM:619428
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Adiposis Dolorosa
Sparse pubic hair, Diarrhea, Xerostomia, Obesity, Sparse axillary hair, Constipation, Arthritis, ... ORPHA:36397
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Abnormal blood phosphate concentration, Thin eyebrow, Leukonyc... OMIM:190350
Takenouchi-Kosaki Syndrome
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Downslanted pa... OMIM:616737
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Gastroesophageal reflux, Contracture of the proximal interphalangeal joint of the 2nd finger, Ven... OMIM:300998
Pancreatoblastoma
Vomiting, Diarrhea, Weight loss, Abdominal distention, Abdominal pain ORPHA:677
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anal stenosis, Fair hair, Fine hair, Malabsorption, Sparse eyelashes, Aganglionic... OMIM:250250
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Fine hair, Downslanted palpebral fissures, Supernumerary nipple, Abnormal dental enamel morpholog... ORPHA:1812
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Failure to thrive in infancy, Chronic diarrhea, Panniculitis, Skin rash, Increased circ... OMIM:617099
Robinow Syndrome, Autosomal Dominant 3
Anteriorly placed anus, Tricuspid regurgitation, Long eyelashes, Telecanthus, Upslanted palpebral... OMIM:616894
Congenital Disorder Of Glycosylation, Type Iia
Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Protruding tongue, Ventricular sep... OMIM:212066
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Okamoto Syndrome
Aortic valve stenosis, Facial hypertrichosis, Gastroesophageal reflux, Exaggerated median tongue ... ORPHA:2729
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Valvular pulmonary stenosis, 3-4 toe syndactyly, Telecanthus, Patent foramen oval... OMIM:300707
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy, Death in childhood, Hepatomegaly, Steatorrhea OMIM:602579
Acute Adrenal Insufficiency
Diarrhea, Failure to thrive, Nausea and vomiting, Hyperuricemia, Hyponatremia, Sparse axillary ha... ORPHA:95409
Aicardi Syndrome
Optic atrophy, Gastroesophageal reflux, Sparse lateral eyebrow, Optic disc coloboma, Chorioretina... ORPHA:50
Distal Deletion 12Q
High, narrow palate, Congenital hypertrophy of left ventricle, Pituitary adenoma, Annular pancrea... ORPHA:96149
Hereditary Hemorrhagic Telangiectasia
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Spontaneous hematomas, Tongue telangi... ORPHA:774
Hereditary Elliptocytosis
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... ORPHA:288
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Dilated cardiomyopathy, Ventricular septal defect, High palate... OMIM:616730
Wiskott-Aldrich Syndrome
Abnormal platelet morphology, Abnormal platelet function, Prolonged bleeding time, Thrombocytopenia ORPHA:906
Liver Disease, Severe Congenital
Dry hair, Recurrent otitis media, Dilatation of the ventricular cavity, Ventricular septal defect... OMIM:619991
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Enamel hypomineralization, Coloboma, Subvalvular aortic stenosis, Hyp... ORPHA:47159
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic fingernail, Ventricular septal defect, Anonychia, Camp... OMIM:113000
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Abnormal platelet function, Thrombocytopenia, Increased pro... ORPHA:167
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Skin rash,... OMIM:612714
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia, Weight loss ORPHA:1332
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous ... OMIM:233600
Ulnar-Mammary Syndrome
Camptodactyly of finger, Breast aplasia, Abnormal fingernail morphology, Hypoplastic toenails, Ve... ORPHA:3138
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Epicanthus, Dry hair, Low anterior hairline OMIM:618569
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Sparse eyebrow, Gastroesophageal reflux, Downslanted palpebral fissures, A... OMIM:620568
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure ORPHA:803
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Elsahy-Waters Syndrome
Cataract, Bifid uvula, Anal stenosis, Anteriorly placed anus, Bilateral cryptorchidism, Downslant... OMIM:211380
Developmental Delay With Or Without Dysmorphic Facies And Autism
Highly arched eyebrow, Lacrimal duct aplasia, Small nail, Optic disc coloboma, Umbilical hernia, ... OMIM:618454
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair ORPHA:1028
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Fg Syndrome Type 1
Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Downslanted ... ORPHA:93932
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B... OMIM:271640
Cerebrofaciothoracic Dysplasia
Coarse hair, Downslanted palpebral fissures, Thick eyebrow, Low posterior hairline, Epicanthus, A... ORPHA:1394
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal salivary gland morphology, Increased circulating an... OMIM:181000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Hypopigmentation of hair,... ORPHA:98795
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Anorexia, ... ORPHA:1304
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Death in infancy, Dyspnea, Respiratory failure OMIM:610505
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma, Downslanted palpebral fissures, Eyelid coloboma... ORPHA:2563
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Dilated cardiomyopathy, Eczematoid dermatitis, Ventricular sep... OMIM:618348
Wilson Disease
Sunflower cataract, Chondrocalcinosis, Kayser-Fleischer ring, Splenomegaly, Hepatomegaly, Atypica... OMIM:277900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Camptodactyly of finger, Microphthalmia ORPHA:2547
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Bicuspid aortic valve,... ORPHA:402075
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Viral hepatitis,... ORPHA:91139
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Ptosis, Mitral valve prolapse, Downslanted palpebral fissures OMIM:104350
Retinoblastoma
Cellulitis, Hypopyon, Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Retinobla... ORPHA:790
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Hypoplastic fingernail, Ventricular septal defect, Cardiomegaly, Shallow orbits... ORPHA:96191
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... ORPHA:978
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Abnormal hair morphology, Increased circulating IgE level, Osteomyelitis, ... ORPHA:2314
Hatipoglu Immunodeficiency Syndrome
Atopic dermatitis, Fair hair, Failure to thrive, Premature graying of hair, Recurrent otitis medi... OMIM:620331
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Infectious encephalitis, Hyponatre... ORPHA:3452
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Dilated cardiomyopathy, Secretory diarrhea, Necrotizing ente... OMIM:619573
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Failure to thrive, Abnormal circulating apolipoprotein concentration, Thick hair, Hi... ORPHA:357074
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Toenail dysplasia, Long eyelashes, Thick eyebrow, Hypoplastic toenails, ... OMIM:606232
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Death in infancy, Ventricular septal defect, Tracheoesophageal fistula, E... OMIM:300514
Robinow Syndrome
High anterior hairline, Small nail, Umbilical hernia, Abnormal heart morphology, Ankyloglossia, C... ORPHA:97360
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Death in infancy, Patent foramen ovale, Ventricular septal defect, Atrial s... OMIM:208085
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Malnutrition... ORPHA:275761
Glycogen Storage Disease Iv
Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Bradycardia, Flexion contracture, Arthro... OMIM:232500
Familial Glucocorticoid Deficiency
Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Episodic abdominal pain, Constipation, Weigh... ORPHA:361
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Cyclopia, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Epicanthus, Respiratory failure, Narrow palpebral fissure ORPHA:254528
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Coronal craniosynostosis, Poly... ORPHA:2968
Yunis-Varon Syndrome
Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Sparse eyelashes, Epicanthus, Hi... OMIM:216340
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Frontal upsweep of hair, Mitral valve prolapse, Ventricular septal defect,... OMIM:180849
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Coach Syndrome 1
Portal hypertension, Splenomegaly, Ptosis, Coloboma, Hepatomegaly, Optic disc pallor, Hypertensio... OMIM:216360
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Interstitial pneumonitis, Abnormal inte... OMIM:615952
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Atrioventricular canal defect,... OMIM:613751
Ellis Van Creveld Syndrome
Abnormal hair morphology, Atrioventricular canal defect, Abnormal heart valve morphology, Emphyse... ORPHA:289
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Neonatal respiratory distress, Short palpebral fiss... OMIM:114290
Thakker-Donnai Syndrome
Tetralogy of Fallot, Upslanted palpebral fissure, Congenital diaphragmatic hernia, Ventricular se... ORPHA:1780
Multiple Myeloma
Elevated circulating creatinine concentration, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Menke-Hennekam Syndrome 1
Cataract, Short palpebral fissure, Gastroesophageal reflux, Downslanted palpebral fissures, Umbil... OMIM:618332
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Pleural e... OMIM:618183
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetralogy of Fallot, Hypoplasi... ORPHA:2255
Ocular Cystinosis
Corneal crystals ORPHA:411641
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Broad eyebrow, High pala... OMIM:619244
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology ORPHA:199276
Den Hoed-De Boer-Voisin Syndrome
Gastroesophageal reflux, Downslanted palpebral fissures, Thick eyebrow, Ventricular septal defect... OMIM:619229
Adrenocortical Carcinoma
Hypertrichosis, Hypokalemia, Increased body weight, Weight loss, Abdominal pain ORPHA:1501
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Intestinal malrotation, Umbilical hernia, Cryptorchidism, Abnormal cardiac septum morph... ORPHA:2166
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased specific anti-polysaccharide antibody le... OMIM:301000
Mpi-Cdg
Hepatomegaly, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension ORPHA:79319
Viss Syndrome
Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Contracture of the proximal ... OMIM:619472
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Thin eyebrow, Cryptorchidism, Mitral valve prolapse, Low posterior hairline, Pt... OMIM:618000
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Hypopigmentation of hair,... ORPHA:411511
Primary Dystonia, Dyt4 Type
Respiratory distress, Blepharospasm ORPHA:98805
Williams-Beuren Syndrome
Small nail, Premature graying of hair, Recurrent otitis media, Mitral regurgitation, Mitral valve... OMIM:194050
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Downslanted palpebral fissures, Atrial septal defect, Narrow palpebral fissure, Aplasi... ORPHA:2637
Distal Duplication 5Q
Eczematoid dermatitis, Chorioretinal coloboma, Downslanted palpebral fissures, Ventricular septal... ORPHA:96097
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure OMIM:619259
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Addison Disease
Diarrhea, Failure to thrive, Celiac disease, Nausea and vomiting, Hyperuricemia, Hyponatremia, Sp... ORPHA:85138
Sarcoidosis
Arrhythmia, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Dacryocystitis, Heart b... ORPHA:797
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Decreased testicular size, Congenital hypoparathyroidism, Papilledema, ... ORPHA:93325
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en... ORPHA:779
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Eversion of lateral third of lower eyelids, Exaggerated median ... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Eversion of lateral third of lower eyelids, Exaggerated median ... ORPHA:453504
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Death in infancy, Ventricular septal defect ORPHA:452
Rabson-Mendenhall Syndrome
Cardiomyopathy, Hypertrichosis, Premature graying of hair, Furrowed tongue, Hirsutism, Low anteri... ORPHA:769
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Optic atrophy, Dilated cardiomyopathy, Eczematoid dermatitis, Recurrent otitis media,... OMIM:615688
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Stt3B-Cdg
Respiratory distress ORPHA:370924
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Secundum atrial septal defect, Upslanted palpebral fissure, Pulmonic stenosis OMIM:615802
Hermansky-Pudlak Syndrome 6
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:614075
Magel2-Related Prader-Willi-Like Syndrome
Gastroesophageal reflux, Xerostomia, Hypopigmentation of the skin, Recurrent respiratory infectio... ORPHA:398069
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Acne, Atrial septal defect, Cleft palate, Ventricular septal defect ORPHA:261190
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Intestinal ob... ORPHA:44890
Thymic Carcinoma
Weight loss ORPHA:99868
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Ventricular septal defect OMIM:218350
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, Bowel inconti... ORPHA:330001
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Rectovaginal fistula, Failure to thrive in ... ORPHA:35078
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Myoclonic-Astatic Epilepsy
Frontal balding, Microphthalmia ORPHA:1942
Mixed Connective Tissue Disease
Alopecia, Gastroesophageal reflux, Xerostomia, Gastrointestinal hemorrhage, Skin rash, Myositis, ... ORPHA:809
Chromosome 15Q25 Deletion Syndrome
Downslanted palpebral fissures, Coronary artery fistula, Congenital diaphragmatic hernia, Ventric... OMIM:614294
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Aredyld Syndrome
Aplasia/Hypoplasia of the eyebrow, Cachexia, Sparse body hair ORPHA:1133
Kabuki Syndrome 1
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Anal stenosis,... OMIM:147920
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Elevated circulating creatinine concentration, Psoriasiform dermatitis, Nau... ORPHA:49041
Oromandibular Dystonia
Respiratory distress, Blepharospasm ORPHA:93958
Osteosarcoma
Weight loss ORPHA:668
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Anterior lenticonus, Dysphagia, Lenticonus OMIM:308940
Huntington Disease-Like 1
Weight loss ORPHA:157941
Ring Chromosome 12 Syndrome
High, narrow palate, Secundum atrial septal defect, Dystrophic toenail, Breast hypoplasia, Crypto... ORPHA:1439
Galloway-Mowat Syndrome 3
Downslanted palpebral fissures, Hiatus hernia, Epicanthus, Microphthalmia, Camptodactyly, High pa... OMIM:617729
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Mitral regurgitation, Mitral valve prolapse, Knee osteoarthritis, Bicusp... OMIM:613795
Myasthenia Gravis
Dyspnea, Ptosis, Acrocyanosis ORPHA:589
Fanconi Anemia, Complementation Group C
Cryptorchidism, Ventricular septal defect, Epicanthus, Microphthalmia, Flexion contracture OMIM:227645
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle ... ORPHA:99827
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema ORPHA:50810
Fanconi Anemia, Complementation Group D2
Annular pancreas, Abnormal heart morphology, Cryptorchidism, Tracheoesophageal fistula, Esophagea... OMIM:227646
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea... OMIM:619657
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97278
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Dextrotransposition of the great arteries, Ventricular septal defect, Hig... OMIM:619995
Monosomy 9P
Highly arched eyebrow, Downslanted palpebral fissures, Thick eyebrow, Cryptorchidism, Upslanted p... ORPHA:261112
Classic Multiminicore Myopathy
High palate, Right ventricular hypertrophy, Failure to thrive, Mitral valve prolapse ORPHA:324604
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Cyanosis, Respiratory failure requiring assisted ventilation OMIM:620423
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Chronic constipation, Orchitis, Crohn's disease, Episodic abdomin... OMIM:249100
Maternal Phenylketonuria
Hypoplastic left heart, Bilateral ptosis, Tetralogy of Fallot, Abnormal heart morphology, Ventric... ORPHA:2209
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Concave nail, ... OMIM:305100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Malabsorption, Agammaglobulinemia, Aganglionic megacolon ORPHA:935
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, He... ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Villous atrophy, Death in childhood, Death in infancy, Almond-shaped palpebral fi... OMIM:212065
Adult Syndrome
Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Alopecia of scalp, Sparse axi... OMIM:103285
Cohen-Gibson Syndrome
Cataract, Small nail, Downslanted palpebral fissures, Umbilical hernia, Cryptorchidism, Epicanthu... OMIM:617561
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Nicolaides-Baraitser Syndrome
High, narrow palate, Dry hair, Eczematoid dermatitis, Unilateral narrow palpebral fissure, Downsl... OMIM:601358
Caroli Syndrome
Conjunctival icterus, Portal hypertension, Hematemesis, Cholangiocarcinoma, Abnormal ductus chole... ORPHA:480520
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis OMIM:617600
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Ptosis, Downslanted palpebral fissures ORPHA:1555
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Galloway-Mowat Syndrome 9
Hiatus hernia, Coarse hair, Gastroesophageal reflux, Almond-shaped palpebral fissure OMIM:619603
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Giant Cell Arteritis
Alopecia, Hepatic failure, Gastrointestinal infarctions, Weight loss, Arthritis, Anorexia, Abdomi... ORPHA:397
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Genitopatellar Syndrome
Downslanted palpebral fissures, Pulmonary hypoplasia OMIM:606170
Congenital Contractural Arachnodactyly
Intestinal malrotation, Slender build, Mitral valve prolapse, Tracheoesophageal fistula, High pal... ORPHA:115
Ehlers-Danlos Syndrome, Classic Type, 1
Bowel diverticulosis, Recurrent sinusitis, Mitral valve prolapse, Epicanthus, Osteoarthritis OMIM:130000
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... OMIM:203100
Chromosome 16P13.3 Duplication Syndrome
Bifid uvula, Tetralogy of Fallot, Facial hypotonia, Upslanted palpebral fissure, Hirsutism, Ventr... OMIM:613458
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Esophagitis, Intestinal obstru... ORPHA:913
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Atrial septal d... OMIM:603467
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Ventricular septal defect, Bilateral cleft palate, Atrial ... OMIM:301068
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Stomatitis OMIM:246400
Noonan Syndrome 1
High, narrow palate, Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Cryptorchidism,... OMIM:163950
Klatskin Tumor
Abdominal pain, Weight loss, Cholangiocarcinoma ORPHA:99978
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Failure to thrive, Chilblains, Weight loss, Acute pancreatitis, Feeding difficul... OMIM:619487
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Protracted diarrhea, Bowel urgency, Weight loss, Anorexia, Poor appetite ORPHA:97287
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... ORPHA:371364
Wiedemann-Rautenstrauch Syndrome
Small nail, Cryptorchidism, Reduced subcutaneous adipose tissue, Sparse eyelashes, Absent eyelash... OMIM:264090
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia, Ventricular septal defect ORPHA:1923
Seckel Syndrome 2
Heart murmur, Microglossia, Microphthalmia OMIM:606744
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Astigmatis... ORPHA:96121
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Skin rash, Increased circulating antibody level, Myositis, Arthritis, Sinusiti... OMIM:617591
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Dysphagia, Mitral valve prolapse ORPHA:98
Marburg Hemorrhagic Fever
Hypotension, Uveitis, Subconjunctival hemorrhage, Shock, Skin rash, Orchitis, Conjunctival hypere... ORPHA:99826
Lipodystrophy, Familial Partial, Type 7
Cataract, Pigmentary retinopathy, Decreased adipose tissue around neck, Absence of subcutaneous f... OMIM:606721
Ramos-Arroyo Syndrome
Respiratory distress, Upslanted palpebral fissure, Narrow palpebral fissure, Nasolacrimal duct ob... ORPHA:1051
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Failure to thrive OMIM:256700
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Thick eyebrow, Optic atrophy, Fine hair OMIM:614800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Ventricular septal defect OMIM:615630
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Ventricu... OMIM:312870
8Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal lung lobation, Respiratory distress, Retinal coloboma, Long eyela... ORPHA:508488
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Hepatomegaly, Limb joint contracture, ... OMIM:301072
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, Otitis media, Chronic... ORPHA:667
Simpson-Golabi-Behmel Syndrome
Small nail, Supernumerary nipple, Congenital diaphragmatic hernia, Ventricular septal defect, Epi... ORPHA:373
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Hematochezia, Diarrhea, Atopic dermatitis, Hepatitis, Increased ci... OMIM:615846
Ileal Neuroendocrine Tumor
Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small intestine carcinoid, Episo... ORPHA:100078
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Malnutrition, Weight loss, Odynophagia, Feeding difficulties ORPHA:221098
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Pyoderma, Aplasia of the thymus, C... OMIM:242700
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis OMIM:614300
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... ORPHA:3353
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness,... OMIM:164310
Glycogen Storage Disease Ib
Inflammation of the large intestine, Xanthelasma, Gout, Pancreatitis, Protuberant abdomen, Pancre... OMIM:232220
Cholesteryl Ester Storage Disease
Hepatomegaly, Pruritus, Splenomegaly, Esophageal varix ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Mitral regurgitation, Atrial septal defect, Ventricular septal defect OMIM:301039
Parkes Weber Syndrome
Abnormal bleeding, High-output congestive heart failure, Bounding pulse, Subarachnoid hemorrhage,... ORPHA:90307
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Mitral valve prolapse ORPHA:230839
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Epistaxis, Anasarca, Trans... ORPHA:2929
Papillon-Lefèvre Syndrome
Periodontitis, Hypertrichosis, Sparse body hair, Nail dystrophy, Generalized hirsutism, Pustule, ... ORPHA:678
Glucagonoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ... ORPHA:97280
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Tropical Pancreatitis
Vomiting, Malnutrition, Chronic calcifying pancreatitis, Weight loss, Nausea ORPHA:103918
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Contractures of the large joints, Ventricular septa... ORPHA:3078
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Hyperammonemia, Hyperuricemia, Weight loss, Anorexia ORPHA:134
Peters-Plus Syndrome
Cataract, Facial hypertrichosis, Peters anomaly, Anteriorly placed anus, Retinal coloboma, Umbili... OMIM:261540
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Abdominal distention, Cholecystitis, Episodic abdominal pain, Weight loss... ORPHA:100086
Acrofacial Dysostosis, Catania Type
Coarse hair, Downslanted palpebral fissures, Inguinal hernia, Cryptorchidism, Abnormal hair pattern ORPHA:1786
Hyper-Igd Syndrome
Diarrhea, Vomiting, Lymphadenitis, Molluscum contagiosum, Skin rash, Increased circulating IgA le... OMIM:260920
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Hypopigmentation of hair,... ORPHA:98794
Coccidioidomycosis
Respiratory distress, Pneumonia, Exudative pleural effusion, Pleural empyema ORPHA:228123
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Seborrheic dermatitis, Telangiectasia of the skin, Ovarian serous cystadenoma, ... ORPHA:276280
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Broad thumb, Bicuspid aortic valve, Short palm, Tapered finger OMIM:614501
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Highly arched eyebrow, Gastroesophageal reflux, Downslanted palpebral fissures, Contracture of th... OMIM:301044
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Skin rash, Mitral valve prolapse, Abnorm... ORPHA:758
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Fine hair, Failure to thrive in infancy, Submucous cleft hard palate, Feeding difficulties in inf... OMIM:618891
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Recurrent otitis m... OMIM:612562
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Ptosis, Downslanted palpebral fissures OMIM:123790
Garg-Mishra Progeroid Syndrome
Sparse hair, Small nail, Microphthalmia OMIM:620601
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Umbilical hernia, Tetralogy of Fallot, Downslanted palpebral fissures, Thi... ORPHA:1519
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon, Microphthalmia OMIM:123570
Helsmoortel-Van Der Aa Syndrome
Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Epicanthus, Atrial septal defect, Narrow pa... OMIM:615873
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Velopharyngeal insufficiency, Tricuspid regurgitation, Absent toenail, Upslanted palpebral fissur... OMIM:620663
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral valve prolap... ORPHA:363700
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Downslanted palpebral fissures, Camptodactyly of finger, Ventricular sep... ORPHA:261236
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Congestive heart failu... OMIM:182250
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Ptosis, Atrial septal defect, High palate, Flexion contracture OMIM:309520
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst... ORPHA:97283
Weaver Syndrome
Joint contracture of the hand, Fine hair, Downslanted palpebral fissures, Umbilical hernia, Crypt... OMIM:277590
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia, Chorioretinal coloboma ORPHA:163961
Grfoma
Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ... ORPHA:97261
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Neuroblastoma
Chronic diarrhea, Abdominal distention, Weight loss, Increased circulating ferritin concentration ORPHA:635
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Optic atrophy, Unilateral microphthalmos, Splenomegaly OMIM:615085
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Thick eyebrow, Mitral valve prolapse, Left ventricular hypertrop... ORPHA:230851
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Bowel incontinence ORPHA:702
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Bilateral cryptorchidism, Downslanted palpebral fissures, Hip contracture, Anonychia, F... ORPHA:3042
Beckwith-Wiedemann Syndrome
Splenomegaly, Polycythemia ORPHA:116
Auriculocondylar Syndrome
Respiratory distress, Ptosis ORPHA:137888
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Premature graying of hair, Retinal telangiectasia, Portal hypertensi... OMIM:617341
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Weight loss, Small for gestational age ORPHA:424
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Hyperlipidemia, Brittle hair, High palate, Sparse hair OMIM:608612
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, White forelock,... OMIM:613266
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Rod-cone dystrophy, Splenomegaly, Cardiomyopathy, Brittle hair OMIM:616084
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Marden-Walker Syndrome
Bifid uvula, Short palpebral fissure, Aplasia/Hypoplasia involving the skeletal musculature, Musc... ORPHA:2461
Orofaciodigital Syndrome Type 1
Alopecia, Coarse hair, Chronic otitis media, Downslanted palpebral fissures, Hamartoma of tongue,... ORPHA:2750
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Retinopathy, Cardiomegaly, Hepatomegaly, Hypertension OMIM:603903
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Gastrointestinal hemorrhage, Oral leukoplakia, Fine hair, Premature graying of hair, Na... OMIM:613990
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Otitis media, Intestinal obstruction, Skin rash... ORPHA:900
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Low... ORPHA:99413
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
C Syndrome
Upslanted palpebral fissure, Ventricular septal defect, Epicanthus, Hepatomegaly, High palate OMIM:211750
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... ORPHA:556
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Epicanthus OMIM:618733
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Conjunctivitis ORPHA:79241
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Pallister-Killian Syndrome
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Sparse eyelashes, Apneic episodes in in... OMIM:601803
Necrobiosis Lipoidica
Inflammatory abnormality of the skin ORPHA:542592
8P11.2 Deletion Syndrome
Upslanted palpebral fissure, Mitral valve prolapse, Epicanthus, Blepharophimosis, Atrial septal d... ORPHA:251066
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Knee osteoarthritis, Osteoarthritis of the elbow, Mitral valve prolapse, Pericarditis ORPHA:2848
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress OMIM:619272
Omodysplasia 1
Axillary pterygium, Popliteal pterygium, Umbilical hernia, Ventricular septal defect, Pulmonary a... OMIM:258315
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Epicanthus, Blepharophimosis, Pulmonic stenosis ORPHA:314679
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Pallister-Hall Syndrome
Microglossia, Anteriorly placed anus, Decreased response to growth hormone stimulation test, Decr... OMIM:146510
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft palate, Microphthalmia OMIM:614402
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral atresia, Mitra... OMIM:220111
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Aortopulmonary window, Exertional dyspnea, Hypoxemia ORPHA:97214
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Abnormal heart morphology, Cleft soft palate, Ventricular sep... ORPHA:124
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Neoplasm of the liver, Weight loss, Anor... ORPHA:100085
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Obesity, Elevated circulating C-reactive prot... ORPHA:70591
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Umbilical hernia, Protruding tongue, Ventricular septal defect, Epicanth... OMIM:301040
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Joubert Syndrome 2
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, High palate, Retinal dystrophy OMIM:608091
Chromosome 14Q11-Q22 Deletion Syndrome
Short palpebral fissure, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect... OMIM:613457
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Epica... OMIM:151100
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Recurrent otitis media, Ventricular septal defect, Bicuspid aortic val... OMIM:616462
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Obesity, Constipation, Weight loss, Transient hypophosphate... ORPHA:79102
Catel-Manzke Syndrome
Bifid uvula, Umbilical hernia, Thin eyebrow, Upslanted palpebral fissure, Ventricular septal defe... OMIM:616145
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Anal stenosis, Gastroesophageal reflux, Joint contracture of the hand, Intestinal ma... OMIM:300373
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic abdominal pain, Weight loss, Hypercalcemia, Nausea ORPHA:276621
Acute Monoblastic/Monocytic Leukemia
Weight loss, Anorexia ORPHA:514
Zinc Deficiency, Transient Neonatal
Alopecia, Eczematoid dermatitis OMIM:608118
Kniest Dysplasia
Respiratory distress OMIM:156550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Eczematoid dermatitis, Bilateral microphthalmos, Camptodactyly of fing... ORPHA:468631
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Hyperammonemia, Hyperuricemia, Weight loss, Reye syndrome-like episodes, Episodic vomit... ORPHA:20
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Cog8-Cdg
Protein-losing enteropathy, Skeletal muscle atrophy ORPHA:95428
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Gastroesophageal reflux, Ventricular septal defect, Pulmonary artery stenosis, Atrial s... ORPHA:79345
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Pterygium, Congenital pyloric atresia, Nausea and vomiting, Nail dy... ORPHA:79403
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Apert Syndrome
Bifid uvula, Downslanted palpebral fissures, Ventricular septal defect, Overriding aorta, Ectopic... OMIM:101200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying of hair, Nail ... OMIM:612199
Fraser Syndrome 2
Intestinal malrotation, Cryptophthalmos, Low anterior hairline, Hypoplasia of the thymus, Rectal ... OMIM:617666
Arthrogryposis, Distal, Type 12
Cryptorchidism, Mitral valve prolapse, Ptosis, High palate, Hydrocele testis OMIM:620545
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure, High pal... ORPHA:1974
Glycogen Storage Disease Ic
Inflammation of the large intestine, Hyperlipidemia, Gout, Hyperuricemia, Chronic pancreatitis, H... OMIM:232240
Cystic Echinococcosis
Hyperbilirubinemia, Increased circulating antibody level, Weight loss, Membranous nephropathy, Ab... ORPHA:400
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia ORPHA:97289
Alternating Hemiplegia Of Childhood
Respiratory distress, Thin eyebrow, Apnea, Flushing ORPHA:2131
Meckel Syndrome, Type 2
Intestinal malrotation, Omphalocele, Microphthalmia, Bile duct proliferation, Cleft palate OMIM:603194
Prader-Willi Syndrome
Hypopigmentation of the skin, Xerostomia, Periodontitis, Recurrent respiratory infections, Erysip... ORPHA:739
Silver-Russell Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Cachexia, Constipation, Feeding d... ORPHA:813
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Peripheral pulmonary artery stenosis, Recurrent otitis media, ... OMIM:619575
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Xerostomia, Recurrent respiratory infections, Almond-shaped palpebr... ORPHA:398079
Acute Promyelocytic Leukemia
Abdominal pain, Weight loss, Stomatitis, Anorexia ORPHA:520
X-Linked Intellectual Disability, Cabezas Type
Obesity, Abnormal hair pattern, Cachexia, High palate, Synophrys ORPHA:85293
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Familial Mediterranean Fever
Diarrhea, Erysipelas, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Mala... ORPHA:342
Alström Syndrome
Testicular fibrosis, Frontal balding, Hepatosplenomegaly, Polycystic ovaries, Cone/cone-rod dystr... ORPHA:64
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Shprintzen-Goldberg Syndrome
High, narrow palate, Gastroesophageal reflux, Failure to thrive, Downslanted palpebral fissures, ... ORPHA:2462
Toriello-Carey Syndrome
Short palpebral fissure, Sparse eyebrow, Cardiomyopathy, Tetralogy of Fallot, Telecanthus, Abnorm... ORPHA:3338
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Cryptorchidism, Microphthalmia OMIM:600901
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, Weight loss, A... ORPHA:85408
Rett Syndrome
Cachexia, Gastroesophageal reflux, Constipation OMIM:312750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Chorioretinal coloboma, Ankyloglossia, Ventricular septal defect, Bicuspid aortic valve, Torticol... OMIM:619475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Occipital Horn Syndrome
High, narrow palate, Atypical scarring of skin, Coarse hair, Gastroesophageal reflux, Hepatitis, ... ORPHA:198
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Malrotation of small bowel, Gastroesophageal reflux, Decreased muscle mass... OMIM:194190
Diamond-Blackfan Anemia 1
Downslanted palpebral fissures, Ventricular septal defect, Epicanthus, Atrial septal defect, Tric... OMIM:105650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Ventricular septal defect, Hiatus hern... OMIM:616682
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Johanson-Blizzard Syndrome
Frontal upsweep of hair, Death in childhood, Ventricular septal defect, Atrial septal defect, Hep... OMIM:243800
Fanconi Anemia, Complementation Group L
Upslanted palpebral fissure, Tracheoesophageal fistula, Esophageal atresia, Microphthalmia, Anal ... OMIM:614083
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Cryptorchidism, Microphthalmia OMIM:227650
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Recurrent respiratory infections, Almond-sha... ORPHA:98754
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Death in infancy, Ventricular septal defect, Short hard palate... ORPHA:1393
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Gastroesophageal reflux, Downslanted palpebral fissures, Telecanthus, Cryptorchidi... OMIM:182212
Perry Syndrome
Weight loss OMIM:168605
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Oral leukoplakia, Premature graying of hair, Generalized hy... ORPHA:3322
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria ORPHA:100050
17Q24.2 Microdeletion Syndrome
Downslanted palpebral fissures, Thick eyebrow, Ptosis, Pulmonic stenosis, Synophrys ORPHA:529962
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Recurrent respiratory infections, Almond-sha... ORPHA:98793
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Aplasia/Hypoplasia of the nails, Downslanted palpebral fissures, Bilateral ptosis, Upslanted palp... ORPHA:163979
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Patent foramen ovale, Ventri... OMIM:618748
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Recurrent respiratory infections, Almond-sha... ORPHA:177904
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Death in childhood, Hepatomegaly, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Recurrent respiratory infections, Almond-sha... ORPHA:177901
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Splenomegaly, Hepatomegaly, Esophageal varix, Hepatocellular carc... OMIM:619463
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hy... OMIM:241410
Pitt-Hopkins Syndrome
Hyperventilation, Acrocyanosis, Upslanted palpebral fissure, Abnormal pattern of respiration ORPHA:2896
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Vipoma
Secretory diarrhea, Abnormal gastrointestinal motility, Malabsorption, Nausea and vomiting, Hypok... ORPHA:97282
Hand-Foot-Genital Syndrome
Hypoplastic fifth toenail, Miscarriage, Ventricular septal defect ORPHA:2438
Pyomyositis
Myositis, Weight loss, Recurrent cutaneous abscess formation ORPHA:764
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Upslanted palpebral fissure, Pulmonic stenosis OMIM:618343
Trichorhinophalangeal Syndrome, Type Ii
Bicuspid aortic valve, Myocardial infarction, Cerebral arteriovenous malformation, Partial anomal... OMIM:150230
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Gastroesophageal reflux, Shoulder flexion contracture, Fine hair, Tetralogy of Fa... OMIM:210710
Lynch Syndrome
Gastrointestinal hemorrhage, Neoplasm of the stomach, Malabsorption, Nausea and vomiting, Salivar... ORPHA:144
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Doors Syndrome
Respiratory distress, Epicanthus, Bilateral ptosis, Aspiration pneumonia ORPHA:79500
Malt Lymphoma
Posterior uveitis, Nausea and vomiting, Constipation, Weight loss, Abdominal pain ORPHA:52417
Menkes Disease
Sparse hair, Gastrointestinal hemorrhage, Umbilical hernia, Osteomyelitis, Intracranial hemorrhag... ORPHA:565
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Gastroesophageal reflux, Dilatation of the ventricular cavity, Ventricular septal defect, Hirsuti... ORPHA:459070
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Thauvin-Robinet-Faivre Syndrome
Downslanted palpebral fissures, Retinal coloboma, Mitral valve prolapse, Ventricular septal defec... OMIM:617107
8P23.1 Microdeletion Syndrome
High palate, Weight loss, Obesity ORPHA:251071
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacolon, Ec... ORPHA:2473
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Downslanted palpebral fissures, Tetralogy of Fallot, Lower eyelid c... OMIM:154400
Alveolar Echinococcosis
Vomiting, Cutaneous abscess, Decreased liver function, Increased circulating antibody level, Weig... ORPHA:284
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Short palpebral fissure, Camptodactyly of finger, Atrioventricular canal defect, Sub... ORPHA:3047
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomy... ORPHA:565612
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Downslanted palpebral fissures, Thin eyebrow, Loss of eyelashes, Dyspnea, Respiratory failure ORPHA:2636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Retinal dysplasia, Opacification of the corneal stroma, Optic nerve dy... OMIM:615287
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Splenomegaly, Hepatomegaly, Acholic stools, Steatorrhea, Fat malabsorption OMIM:607765
Craniofacioskeletal Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Ventricular septal defect, Blepharophimo... OMIM:300712
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Alopecia universalis, Cheilitis, Recurrent pneumonia, Anoperineal fistula, Failure t... ORPHA:158668
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia, Gastrostomy tube feeding in infancy ORPHA:300605
Parathyroid Carcinoma
Peptic ulcer, Nausea and vomiting, Episodic abdominal pain, Hypophosphatemia, Pancreatitis, Dysph... ORPHA:143
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormal heart morphology, Dilatation of the ventricular cavity, Sacroiliac a... ORPHA:85438
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Gastric varix, Pruritus, Esophage... ORPHA:64743
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Kikuchi-Fujimoto Disease
Alopecia, Malar rash, Enlargement of parotid gland, Skin rash, Pustule, Myocarditis, Abnormality ... ORPHA:50918
Ehlers-Danlos Syndrome, Classic-Like, 1
Hiatus hernia, Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Hereditary Pheochromocytoma-Paraganglioma
Episodic abdominal pain, Weight loss, Hypercalcemia, Nausea ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Few cafe-au-lait spots... OMIM:620330
Osteoglophonic Dysplasia
Respiratory distress, Telecanthus, Shallow orbits, Downslanted palpebral fissures OMIM:166250
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Cerebrocostomandibular Syndrome
Anal stenosis, Gastroesophageal reflux, Anteriorly placed anus, Downslanted palpebral fissures, E... OMIM:117650
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Alopecia, Periodontitis, Bilateral ptosis, Cryptorchidism, Mitral valve prolapse, ... ORPHA:536532
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Failure to thrive, Hypomagnesemia, Exocrine pancre... OMIM:219800
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Downslanted palpebral fissures, Mitral valve prolapse, Feeding difficulties ... OMIM:616914
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Splenomegaly, Ventricular septal defect, Weakness of facial musculature, Epicanthus, Multiple pul... OMIM:619418
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Downslanted palpebral fissures, Intervertebral disk degeneration, Arachn... OMIM:619656
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Upslanted palpebral fissure, Ventricular septal defect OMIM:619306
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Nausea, Weight loss, Abdominal pain ORPHA:98849
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis, Spontaneous esophageal perforation OMIM:277320
Pallister-Hall Syndrome
Hypopituitarism, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia,... ORPHA:672
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent otitis me... OMIM:245150
Primary Biliary Cholangitis
Hepatitis, Xanthelasma, Portal hypertension, Splenomegaly, Orthostatic hypotension, Gastrointesti... ORPHA:186
Cranioectodermal Dysplasia 3
Short nail, Fine hair, Telecanthus, Broad nail, Sparse hair OMIM:614099
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Furrowed tongue, Macroglossia, Cheilitis ORPHA:2483
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Eversion of lateral third of lower eyelids, High anterior hairline, Gastroesophageal reflux, Aspi... ORPHA:438213
Meckel Syndrome, Type 5
Bile duct proliferation, Cleft palate, Microphthalmia OMIM:611561
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Steinert Myotonic Dystrophy
Respiratory insufficiency, Bilateral ptosis, Respiratory insufficiency due to muscle weakness, Re... ORPHA:273
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Median cleft palate, Patent foramen ovale, Ventr... OMIM:301043
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Gastroesophageal reflux, Mitral valve prolapse ORPHA:449291
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of ... ORPHA:79078
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepatomegaly, Hepatocellular adenoma, Esophagea... ORPHA:264580
Cap Myopathy
High palate, Mitral valve prolapse ORPHA:171881
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cyclopia, Cleft p... OMIM:619895
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Malar rash, Weight loss, Lupus nephritis, Arthritis, Anorexia, Chei... ORPHA:536
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss, Increased erythrocyte protoporphyrin concentration OMIM:301310
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy OMIM:617156
Isolated Arrhinia
Respiratory distress, Eyelid coloboma ORPHA:1134
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse OMIM:264800
Aortic Aneurysm, Familial Thoracic 10
Bicuspid aortic valve, Left ventricular hypertrophy OMIM:617168
Frontometaphyseal Dysplasia 1
Cor pulmonale, Downslanted palpebral fissures, Mitral valve prolapse, Hirsutism, High palate, Cle... OMIM:305620
Occipital Horn Syndrome
Coarse hair, Chronic diarrhea, Hiatus hernia, Pili torti, High palate, Decreased circulating ceru... OMIM:304150
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis ORPHA:100079
Ulnar-Mammary Syndrome
Axillary apocrine gland hypoplasia, Anal stenosis, Sparse lateral eyebrow, Elbow flexion contract... OMIM:181450
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia, Chronic constipation ORPHA:411602
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Jaundice, Macular coloboma ORPHA:79282
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatoblastoma, Hepatomega... OMIM:130650
Fanconi Anemia, Complementation Group R
Anal atresia, Microphthalmia OMIM:617244
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Persistent patent ductus venosus, Knee flexion contracture, Ventricular septal defect OMIM:620454
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Mitral valve prolapse, High palate OMIM:177850
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Narro... ORPHA:109
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Neonatal death, Atrial septal defect, Ventricular septal defect OMIM:620024
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Combined Oxidative Phosphorylation Deficiency 15
Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson... OMIM:614947
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia... OMIM:619534
Adrenomyeloneuropathy
Abnormal circulating fatty-acid concentration, Frontal balding, Bowel incontinence, Fine hair ORPHA:139399
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Long eyelashes in irregular rows, Low anterior hairline, Generalized... ORPHA:800
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Long palpebral fissure, Epicanthus, Nasal flaring, Synophrys ORPHA:466943
Arima Syndrome
Optic atrophy, Chorioretinal coloboma, Ptosis, Esophageal varix, Hepatomegaly, Hypertension, Reti... OMIM:243910
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... OMIM:615710
Sotos Syndrome
Small cell lung carcinoma, Cataract, Gastroesophageal reflux, Ankle flexion contracture, Small na... ORPHA:821
Coffin-Lowry Syndrome
Highly arched eyebrow, Narrow palate, Coarse hair, Downslanted palpebral fissures, Hyperconvex fi... OMIM:303600
Renal Nutcracker Syndrome
Abdominal pain, Weight loss, Nausea ORPHA:71273
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Sclerosing cholangitis, Hepatomegaly, Pruritus, Bile duct proliferation, Eso... OMIM:619662
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Anteriorly placed anus, Optic disc coloboma, Hamartoma of tongue, Retina... OMIM:615948
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Cleft palate, Ventricular septal ... OMIM:613309
Erdheim-Chester Disease
Osteomyelitis, Nausea and vomiting, Skin rash, Weight loss, Abdominal pain ORPHA:35687
Pmm2-Cdg
Cataract, Increased circulating prolactin concentration, Aspiration pneumonia, Hypertrophic cardi... ORPHA:79318
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Telecanthus, Downslanted palpebral fissures ORPHA:99646
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Tricuspid regurgitation, Thick eyebrow, Mitral regurgitation, Hypoplastic sweat glands, Epicanthu... ORPHA:73223
Femoral-Facial Syndrome
Gastroesophageal reflux, Camptodactyly of finger, Encephalocele, Upslanted palpebral fissure, Tru... OMIM:134780
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Hepatomegaly, Esophageal varix, Steatorrhea OMIM:278000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Increased circulating IgE level, Mitral val... ORPHA:508533
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Clef... OMIM:600460
Plummer-Vinson Syndrome
Esophageal web, Dysphagia, Concave nail, Glossitis, Cheilitis, Tongue atrophy ORPHA:54028
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Duodenal atresia, Ventricular septal defect OMIM:618846
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Vomiting, Frontal balding, Failure to thrive, Hirsutism, Hyponatremia, Weight loss, Hyperkalemia,... ORPHA:90794
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Diarrhea, Gastroesophageal reflux, Vomiting, Melena, Zollinger-Ellison syndrome, Na... ORPHA:652
Neurooculorenal Syndrome
Ectopic posterior pituitary, Highly arched eyebrow, Anteriorly placed anus, Intestinal malrotatio... OMIM:620305
Seckel Syndrome
Cachexia, Sparse scalp hair ORPHA:808
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Skin rash, Elevated circulating creatine kinase conce... ORPHA:99829
Holoprosencephaly 1
Microphthalmia, Cyclopia, Median cleft palate, Single ventricle OMIM:236100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Ventricula... OMIM:610338
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Otopalatodigital Syndrome, Type Ii
Downslanted palpebral fissures, Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:304120
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress ORPHA:255210
Cutis Laxa, Autosomal Recessive, Type Iic
Bilateral cryptorchidism, Biventricular hypertrophy, Median cleft palate, Mitral valve prolapse, ... OMIM:617402
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Choroidal neovascularization, Left ventricular systolic dysfunction, Tra... ORPHA:51608
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Sparse lateral eyebrow, Recurrent otitis media, Ventricular septal defec... ORPHA:513456
Craniotubular Dysplasia, Ikegawa Type
Epicanthus, Mydriasis, Ventricular septal defect OMIM:619727
Sandhoff Disease, Infantile Form
Mitral valve prolapse ORPHA:309155
Mayer-Rokitansky-Küster-Hauser Syndrome
Atrial septal defect, Pulmonic stenosis ORPHA:3109
45,X/46,Xy Mixed Gonadal Dysgenesis
Short 4th metacarpal, Bicuspid aortic valve, Hallux valgus, Epicanthus, Short metatarsal ORPHA:1772
Microvillus Inclusion Disease
Hypovolemia, Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve OMIM:301111
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Epicanthus, Downslanted palpebral fissures OMIM:617088
Tsh-Secreting Pituitary Adenoma
Vomiting, Nausea and vomiting, Hypokalemia, Weight loss, Abnormal hair quantity ORPHA:91347
Atypical Werner Syndrome
Aortic valve stenosis, Abnormal hair whorl, Alopecia, Aortic valve calcification, Failure to thri... ORPHA:79474
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Orofaciodigital Syndrome Type 14
Retinal coloboma, Hamartoma of tongue, Telecanthus, Upslanted palpebral fissure, Aplasia of the e... ORPHA:434179
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Nail dystrophy, Esophageal stenosis OMIM:616553
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pyelonephritis, Pancreatic cysts, Mitral valve prolapse ORPHA:730
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse ORPHA:1900
Superficial Siderosis
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage ORPHA:247245
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Anal atresia, Transposit... OMIM:192350
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Absent thumbnail, Cleft palate, Ventricular septal defect ORPHA:1934
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Hyperlipidemia, Fine hair OMIM:241080
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Ventricular septal defect, Adrenal gland dysgenesis, Omph... OMIM:236680
Familial Thrombocytosis
Weight loss ORPHA:71493
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Pulmonic stenosis OMIM:612541
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fa... OMIM:107480
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension, Esophageal varix, Fulminant hepatitis OMIM:215600
Meester-Loeys Syndrome
Bifid uvula, Downslanted palpebral fissures, Hypertrichosis, Mitral valve prolapse, High palate OMIM:300989
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Failure to thrive ORPHA:99885
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Diarrhea, Neoplasm of the stomach, Hirsutism, Increased ... ORPHA:99889
African Trypanosomiasis
Alopecia, Vomiting, Diarrhea, Myelitis, Keratitis, Optic neuritis, Weight loss, Myocarditis, Conj... ORPHA:3385
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Downslanted palpebral fissures, Telecanthus, Hypoplastic toenails, Ventricular septal defect, Epi... OMIM:619522
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Tetralogy of Fallot, Ankyloglossia, Recurrent otitis media, Splenomegaly... OMIM:619525
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Gitelman Syndrome
Respiratory distress ORPHA:358
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Choreoacanthocytosis
Protruding tongue, Elevated circulating creatine kinase concentration, Weight loss, Arthritis, Dy... ORPHA:2388
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Ventricular septal defect OMIM:620558
Senior-Boichis Syndrome
Hypertension, Hepatosplenomegaly, Portal hypertension, Esophageal varix ORPHA:84081
Camurati-Engelmann Disease
Slender build, Feeding difficulties in infancy, Cachexia, Anorexia ORPHA:1328
17Q11 Microdeletion Syndrome
Downslanted palpebral fissures, Abnormal heart morphology, Hypertrophic cardiomyopathy, Lisch nod... ORPHA:97685
Aneurysm-Osteoarthritis Syndrome
Abnormal heart morphology, Left ventricular hypertrophy, Pulmonic stenosis ORPHA:284984
Proteus Syndrome
Generalized hirsutism, Cachexia, Abnormality of the nail ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Spleen - hyperplasia Adam17tm1a(EUCOMM)Wtsi HET Early adult
Spleen - MPATH diagnostic term extramedullary hemopoiesis Adam17tm1a(EUCOMM)Wtsi HET Early adult
Thymus - hyperplasia Adam17tm1a(EUCOMM)Wtsi HET Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adam17.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Adam17tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Adam17tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Adam17tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Adam17tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adam17tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adam17tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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