Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
paired box 3
Synonyms:
Pax-3,  Splchl2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pax3 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 predicted to be associated to Pax3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Progressive hyperpigmentation, Multiple lentigines, Hyperme... OMIM:145250
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Book Syndrome
Premature graying of hair OMIM:112300
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hypermelanotic macule, Spotty... ORPHA:241
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, A... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Progressive vitiligo OMIM:277465
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Cerebellar Ataxia And Albinism
Albinism OMIM:258300
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Tietz Albinism-Deafness Syndrome
White eyebrow, Blue irides, Generalized hypopigmentation, White eyelashes OMIM:103500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Coronary Arterial Fistula
Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Abnormal left ventricular function,... ORPHA:2041
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Stillbirth, Truncus arteriosus OMIM:274210
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Elevated jugular venous pressure, Abnormal cardiovascular system ph... ORPHA:422
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hypomelanotic macule, Nail dysplasia, Mixed hypo- and hyperpigmentation of ... ORPHA:79397
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopigmentation, Anonychia, H... ORPHA:69125
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Abnormal neck blood vessel morpholog... ORPHA:319487
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Generalized hypopigmentation OMIM:113750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Abnormal toenail morphology, Dystrophic toenail, Absent toenail, Hy... ORPHA:89838
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Congestive heart failure, Increased variability in muscle fiber diameter, Respirator... OMIM:618654
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hy... ORPHA:1209
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibrosis, Dyspnea OMIM:613255
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Isolated Right Ventricular Hypoplasia
Cyanosis, Right atrial enlargement, Hypoxemia, Patent foramen ovale, Congestive heart failure, At... ORPHA:439
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Onychogrypos... OMIM:131960
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Dextrocardia, Situs inversus totalis, Right aortic arch, Goiter OMIM:617577
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Cystic hygroma, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarc... OMIM:618164
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyo... OMIM:253300
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Abnormal pulmonary interstitial morphology, Wheezing, Cyano... ORPHA:2302
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Nail dystrophy, Spotty hyper... ORPHA:79399
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Small hypothenar eminence, Long philtrum, Spina bifida, Camptodactyly, Mit... OMIM:211960
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Endocardial Fibroelastosis
Cryptorchidism, Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Vitiligo, Hypopigmented skin patches, Poliosis ORPHA:3437
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure, Respiratory... ORPHA:91130
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Autosomal Recessive Spastic Paraplegia Type 23
Vitiligo, Silver-gray hair, Multiple lentigines ORPHA:101003
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Cardiac Lipidosis, Familial
Death in infancy, Cardiomyopathy, Congestive heart failure OMIM:212080
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Abnormal neck blood vessel morpholog... ORPHA:97290
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, High palate, Right ventricular dilatation, Long philtrum, Patent ductus arteriosus... OMIM:612863
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Pulmo... ORPHA:401935
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Congenital Tricuspid Valve Dysplasia
Cyanosis, Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Respiratory fail... ORPHA:555874
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation ORPHA:2222
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, High palate, Congestive heart failure, Scapuloperoneal amyotrophy, Hypert... OMIM:255160
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Ridged fingernail, Hyperpigmentation of... ORPHA:2251
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Short neck, Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Thyroid Cancer, Nonmedullary, 1
Goiter, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma OMIM:188550
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Splenomegaly, Pleural effusion, Pulmonic stenosis, Cough, Pul... ORPHA:2414
Absence Of The Pulmonary Artery
Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edema, Cyanosis, ... ORPHA:980
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Low anterior hairline, Spotty hyperpigmentation, Distic... ORPHA:79133
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Respirato... OMIM:263000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Nevus Comedonicus Syndrome
Abnormal hair morphology, Spina bifida, Spina bifida occulta ORPHA:64754
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Dental malocclusion, Patent ductus arteriosus, Velophar... ORPHA:363444
Endocardial Fibroelastosis
Abnormal palate morphology, Congestive heart failure, Cryptorchidism, Endocardial fibroelastosis,... ORPHA:2022
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Gray matter heterotopia, Limb muscle weakness, Spina bifida, Hyd... OMIM:207950
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Classic Multiminicore Myopathy
High palate, Restrictive ventilatory defect, Nocturnal hypoventilation, Congenital muscular dystr... ORPHA:324604
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Ventricular septal defect, Truncus arteriosus OMIM:616589
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Truncus arteriosus, Aorti... OMIM:615415
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers... OMIM:300580
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Diastasis recti, Premature ventricular contractio... ORPHA:1686
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Jaundice, Exertional dyspnea, D... ORPHA:615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Congestive heart failure, Atrial septa... ORPHA:1880
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Congenital Gerbode Defect
Right atrial enlargement, Crackles, Left-to-right shunt, Ventricular septal defect, Holosystolic ... ORPHA:99095
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Leukocytosis, Limited neck flexion, Hashimoto thyroiditis, Cerebral vasculitis, A... ORPHA:83601
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Abnormal coronar... ORPHA:3400
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Microglossia, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Clef... ORPHA:141152
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hypo... ORPHA:1816
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia ORPHA:226292
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Phace Association
Patent ductus arteriosus, Optic atrophy, Optic nerve hypoplasia, Coarctation of aorta, Congenital... OMIM:606519
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestina... ORPHA:90308
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Long philtrum, Macroglossia, Ventricular septal defect, Mitral regur... ORPHA:363705
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal resp... ORPHA:2257
Schisis Association
Anencephaly, Spina bifida, Encephalocele, Congenital diaphragmatic hernia ORPHA:63862
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized reticulate brown pigmentatio... ORPHA:158681
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of the intrinsic hand muscles, High palate, Restrictive ventilatory defect, Ab... ORPHA:98913
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Tachypnea, Hypertension, Nodular pattern on pulmonary HRCT, Cyanosis, Reticu... ORPHA:79126
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes OMIM:300650
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone OMIM:274300
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Spina bifida, Ventricular septal defect, Cleft palate, Congenital mus... ORPHA:2345
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy OMIM:616353
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Muscle fiber necrosis, Resp... OMIM:614399
Caudal Duplication
Spina bifida, Myelomeningocele, Spinal cord lesion ORPHA:1756
Sandestig-Stefanova Syndrome
High palate, Respiratory failure, Muscular ventricular septal defect, Oral cleft, Perimembranous ... OMIM:618804
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Decreased circulating T4 level, Elevated circulat... ORPHA:226316
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Hyperpigmentation of the skin, Freckling OMIM:194400
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Infantile Sialic Acid Storage Disease
High palate, Vacuolated lymphocytes, Congestive heart failure, Splenomegaly, Death in childhood, ... OMIM:269920
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspi... OMIM:616749
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Microphthalmia, Syndromic 9
Hypoplastic spleen, Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Atrial septal ... OMIM:601186
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism, Umbilical hernia OMIM:274400
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Cryptorchidism, Spinal dysraphism, Abnormality of the pulmona... ORPHA:1926
Gluteal Muscles, Absence Of
Spina bifida occulta, Congenital absence of gluteal muscles, Optic nerve hypoplasia OMIM:231970
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Restrictive ventilatory defect, Foot dorsiflexor weakness, Skeletal mus... ORPHA:178464
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Short philtrum, Flexion contracture, Arrhythmia, Congestive ... ORPHA:1194
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Emanuel Syndrome
Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Pulmonic stenosis, Thickened nuch... OMIM:609029
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Adrenal hypoplasia, Pul... OMIM:220210
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Ragged-red muscle fiber... OMIM:540000
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Myopathy, Res... ORPHA:157973
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Criss-Cross Heart
Cyanosis, Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pu... ORPHA:1461
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Dyspnea, Atrial fibrillation, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Inflammatory myopathy, Skeletal muscle atrophy, Cryptorchidism, Spinal muscular atro... ORPHA:1145
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Dif... ORPHA:199241
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Stankiewicz-Isidor Syndrome
Pineal cyst, Patent ductus arteriosus, Cryptorchidism, Abnormality of the optic disc, Ventricular... OMIM:617516
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure, Hydrocephalus OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Apnea, Left ventricular hypertrophy OMIM:619048
Acrocardiofacial Syndrome
Tetralogy of Fallot, Cryptorchidism, Atrial septal defect, Hyperthyroidism, Coarctation of aorta,... ORPHA:2008
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Crackles, Tachypnea, Vent... OMIM:610978
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Atrial septa... OMIM:618316
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Lymphadenopathy, Broad neck, Goiter ORPHA:97285
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Pagod Syndrome
Abnormal aortic morphology, Encephalocele, Pulmonary artery hypoplasia, Arrhythmia, Sudden cardia... ORPHA:991
Familial Cold Autoinflammatory Syndrome 3
Vitiligo OMIM:614468
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Atrial septal defect, Double outlet right ventricle, Mitral valve prolapse, C... ORPHA:371428
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism OMIM:225250
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Decreased circu... ORPHA:99832
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Recurrent pneumonia, Hepatosplenomegaly, Abnormal heart valve morp... OMIM:309900
Barth Syndrome
Dilated cardiomyopathy, Skeletal myopathy, Granulocytopenia, Arrhythmia, Endocardial fibroelastos... OMIM:302060
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle flexion contractu... ORPHA:1143
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Camptodactyly of finger, Intestinal malrotation, Diastomatom... ORPHA:1759
Amish Lethal Microcephaly
Lissencephaly, Spina bifida, Limb hypertonia, Optic atrophy ORPHA:99742
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Narrow mouth, High palate, Flexion contracture, Patent foramen ovale, Patent ductus arteriosus, C... OMIM:616866
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Perching Syndrome
High palate, Camptodactyly, Flexion contracture, Respiratory distress OMIM:617055
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Double outle... OMIM:179613
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Sandhoff Disease
Cherry red spot of the macula, Splenomegaly, Recurrent respiratory infections, Congestive heart f... ORPHA:796
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Abnormal aortic valve cusp morphology, Patent ductus ar... ORPHA:99094
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, High palate, Myelomeningocele, Tracheoesophageal fistula, De... ORPHA:2437
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Splenomegaly, Abnormal pattern of respiration, Cough, Recurr... ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Tongue fasciculations, R... ORPHA:238329
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Death in adolescence, ... OMIM:605676
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure, Congestive heart failure OMIM:616794
Blepharochalasis And Double Lip
Goiter OMIM:109900
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Desminopathy
Distal lower limb muscle weakness, Congestive heart failure, Sudden cardiac death, Respiratory in... ORPHA:98909
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Acatalasemia
Vitiligo ORPHA:926
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Hypopigmentation of the skin, Nail dysplasia, Nail dystrophy OMIM:601957
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Waardenburg Syndrome, Type 1
White eyebrow, Premature graying of hair, Myelomeningocele, Heterochromia iridis, Thick eyebrow, ... OMIM:193500
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Atrial septal de... ORPHA:3304
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Megaloblastic anemia, Ventricular... ORPHA:49827
Neuralgic Amyotrophy
Narrow mouth, Respiratory insufficiency, Acrocyanosis, Scapular winging, Cleft palate ORPHA:2901
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory failure requiring assisted ventilation, Ragged-red muscle fibers, Macrog... ORPHA:254864
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Anencephaly, Situs inversus totalis, Spinal dysraphism, Ventricular septal d... ORPHA:1908
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Shor... OMIM:314400
Lelis Syndrome
Vitiligo, Perioral hyperpigmentation ORPHA:140936
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Congestive heart failure OMIM:301021
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Arrhythmia, Congestive heart failure, Abnormal EKG, ... OMIM:310200
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Paroxysmal dyspnea, Hypertrop... ORPHA:444013
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Protruding tongue, Abnormal atrioventricular valve morphology, Congestive heart f... ORPHA:324410
Aorta Coarctation
Perimembranous ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteri... ORPHA:1457
Idiopathic Trachyonychia
Vitiligo ORPHA:79153
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Hypoxemia, Mitral regurgitation, Aortic root aneurysm, Abnormal e... ORPHA:284979
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Normochromic microcytic anemia, Generalized amyotrophy, Muscular ventricu... ORPHA:66634
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatosplenomegaly, Flexion contracture, Portal hypertension, Skeletal mu... ORPHA:367
Congenital Vertical Talus
Achilles tendon contracture, Myelomeningocele, Distal arthrogryposis, Abnormality of the foot mus... ORPHA:178382
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Hypertension, Cutis marmorata, Congestive heart failure, Myocard... ORPHA:183
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Tooth agenesis, Congenital diaphragmatic hernia, Abnormality... ORPHA:1166
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Limb muscle weakness, Respiratory insufficiency due to muscle weakne... OMIM:605809
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Howell-Jolly bodies, Death in child... OMIM:613759
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation, Myocardial infarction, C... ORPHA:132
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Oculocerebral Hypopigmentation Syndrome Of Preus
Generalized hypopigmentation OMIM:257790
Rhabdomyosarcoma, Embryonal, 2
Goiter, Thyroid nodule, Multinodular goiter, Ovarian thecoma OMIM:180295
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Abnormality of the thyroid gland, Thyroid dysgen... ORPHA:442
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Generalized hypopigmentation OMIM:615075
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Sudden episodic ap... OMIM:254210
Waardenburg Syndrome, Type 3
Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White forelock, Blue... OMIM:148820
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Situs inversus totalis, Microglossia, Upper airway obstruc... OMIM:612776
Meckel Syndrome, Type 2
Renal cyst, Meningocele, Anencephaly, Encephalocele OMIM:603194
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Reduced ejection fraction, Arrhythmia, Congesti... ORPHA:85451
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Arteriovenous fistula, Vascular skin abnormality, Congestive heart failure, Peripher... ORPHA:137667
Emanuel Syndrome
Hydrocephalus, Delayed eruption of teeth, Patent ductus arteriosus, Cryptorchidism, Atrial septal... ORPHA:96170
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Cor... OMIM:613485
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Generalized amyotrophy, Increased variability in muscle fiber diameter,... ORPHA:52430
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Myxedema
Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Pancytopenia, Insulin-resistant diabetes mellitus OMIM:210740
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Accessory spleen, Cryptorchidism, Dysplastic tricu... OMIM:618280
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Camptodactyly Syndrome, Guadalajara Type 1
Microtia, Low-set, posteriorly rotated ears, Spina bifida, Attached earlobe, Camptodactyly of fin... ORPHA:1327
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Frontal encephalocele ORPHA:261102
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Leukocytosis, Hypoxemia, Bronchial... ORPHA:1302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary in... ORPHA:2326
Thyrocerebroretinal Syndrome
Goiter, Thrombocytopenia OMIM:274240
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Tetralogy of Fallot, Umbilical hernia, Patent foramen ovale, Patent ductus ar... OMIM:600001
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy, Respiratory distress ORPHA:26792
Pulmonary Arteriovenous Malformation
Cyanosis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Ischemic stroke, Cough, Myocar... ORPHA:2038
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Congestive heart failure, Prominent veins on trunk, Hypertrophic cardiomyopat... ORPHA:79083
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Ragged-red muscle fibers, Hypertrophic cardiomy... ORPHA:1349
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Cardiac arrest, Respiratory failure, Tachypnea, Respiratory tract... ORPHA:70587
Cerebrocostomandibular Syndrome
Myelomeningocele, Tracheomalacia, Hydranencephaly, Spina bifida, Short hard palate, Glossoptosis,... ORPHA:1393
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Limb muscle weakness, Decreased muscle mass, Bruising susceptibility, Recurr... ORPHA:1900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Atrial septal defect, Thyroid agenesis,... ORPHA:3047
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Ventricular septal defect, Interrupted aortic arch, Patent foramen... ORPHA:2255
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Lymphadenopathy, Broad neck, Goiter, Nodular goiter ORPHA:142
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Submucous clef... OMIM:619227
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia, Sparse body hair, Nail d... ORPHA:79402
Otosclerosis 10
Otosclerosis OMIM:615589
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Hypoxemia, Patent ductus arteriosus, Atrial septal defect, Intestinal malrot... ORPHA:2847
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Congestive heart failure, Hypopituitarism, Cerebral hemorrhage, ST segment depressi... ORPHA:90065
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy, Hypertension, Malabsorption ORPHA:225
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation OMIM:261600
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Wolff-Parkinson-White syndrome OMIM:614947
Ascher Syndrome
Goiter, Hypothyroidism ORPHA:1253
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fo... ORPHA:264675
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Pili torti, Fine hair, Freckling, Sparse scalp hair, Melanocytic nevus ORPHA:1573
Babesiosis
Leukopenia, Congestive heart failure, Splenomegaly, Cough, Jaundice, Myocardial infarction, Hemol... ORPHA:108
Grange Syndrome
Aortic regurgitation, Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arterial... ORPHA:79094
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Reduced systolic function, Death in childhood, Ebstein anomaly of the tri... OMIM:619492
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Syringomyelia, Patent foramen ovale, Atrial septal defect, Double outlet right ... ORPHA:477817
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome