Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Attention deficit hyperactivity disorder, Gait ataxia |
OMIM:618221 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
2q33.1 deletion syndrome |
|
Inguinal hernia, High palate, Cleft palate |
DECIPHER:51 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions |
OMIM:606053 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Inguinal hernia, Prominent superficial veins, Atypical scarring of skin, Umbilical hernia, Bruisi... |
OMIM:617174 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia, Death in infancy |
OMIM:254120 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Unsteady gait, Impaired ability to form peer relationships, Impaired social interactions, Truncal... |
OMIM:608636 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Perching Syndrome |
|
Joint contracture, Cyanosis, Camptodactyly |
OMIM:617055 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Arthrogryposis multiplex conge... |
OMIM:254210 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Bruising susceptibility, Hernia |
ORPHA:75497 |
Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Cutis marmorata |
OMIM:615297 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Abnormal social behavior |
ORPHA:391417 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Camptodactyly, Umbilical hernia |
OMIM:618011 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:1373 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... |
ORPHA:168782 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis |
ORPHA:2476 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia |
ORPHA:1918 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Abnormal peripheral nervous system synaptic transmission, Flexion contracture, Knee flexion contr... |
ORPHA:353327 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Cyanosis, Dystonia |
ORPHA:71277 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... |
ORPHA:208513 |
Thyroid Hemiagenesis |
|
Umbilical hernia, Jaundice |
ORPHA:95719 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Cyanosis, Fatigable weakness of neck muscles, Decrease... |
ORPHA:98913 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Umbilical hernia, Ectodermal dysplasia |
OMIM:273390 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Umbilical hernia, Jaundice |
ORPHA:2349 |
Sialidosis Type 2 |
|
Tremor, Umbilical hernia, Inguinal hernia, Flexion contracture |
ORPHA:87876 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Congenital contracture, Joint contracture of the 5th finger, Umbilical hernia, J... |
ORPHA:352490 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Achondrogenesis, Type Ib |
|
Umbilical hernia, Inguinal hernia, Stillbirth |
OMIM:600972 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Van Den Bosch Syndrome |
|
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... |
ORPHA:3417 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:603034 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Umbilical hernia, Inguinal hernia, Arthrogryposis multiplex congenita |
OMIM:615834 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Arthrogryposis multiplex congenita, Decreased miniature endplate potentials |
OMIM:608930 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
Imagawa-Matsumoto Syndrome |
|
Umbilical hernia, Camptodactyly |
OMIM:618786 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia |
ORPHA:1516 |
Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Limb dystonia |
ORPHA:621 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Umbilical hernia |
ORPHA:231144 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Umbilical hernia, Inguinal hernia |
OMIM:616025 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Diastasis recti |
OMIM:606893 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:95717 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Inguinal hernia |
ORPHA:2196 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Umbilical hernia, Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finge... |
ORPHA:2872 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Prematurely aged appearance, Umbilical hernia, ... |
ORPHA:2963 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:613544 |
Aminopterin Syndrome Sine Aminopterin |
|
Umbilical hernia, Inguinal hernia, Joint contracture of the hand |
OMIM:600325 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand |
OMIM:175700 |
Schisis Association |
|
Omphalocele, Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, U... |
ORPHA:63862 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Achondrogenesis |
|
Umbilical hernia, Inguinal hernia |
ORPHA:932 |
Transient Neonatal Diabetes Mellitus |
|
Umbilical hernia |
ORPHA:99886 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Prominent superficial veins, Prematurely aged appearance, Poor w... |
OMIM:618000 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Femoral hernia |
ORPHA:93298 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia |
OMIM:617662 |
Coffin-Siris Syndrome 3 |
|
Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia |
OMIM:614608 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Femoral hernia |
ORPHA:93299 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, Inguinal hernia, High palate, Cleft palate |
ORPHA:1135 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia |
OMIM:618272 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Prominent superficial veins, Poor wound healing, Hiatus hernia, Atrophic scars, ... |
OMIM:130080 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Opisthotonus |
OMIM:250800 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Umbilical hernia, Inguinal hernia, Prominent superficial blood vessels, Athetosis |
OMIM:219150 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Frank-Ter Haar Syndrome |
|
Umbilical hernia, Inguinal hernia, Camptodactyly of finger |
ORPHA:137834 |
Hyperekplexia 1 |
|
Umbilical hernia, Inguinal hernia, Exaggerated startle response |
OMIM:149400 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia |
ORPHA:1035 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia |
ORPHA:171839 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:95715 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Poor wound healing, Cigarette-paper scars, Umbilical hernia, Bruising susceptibi... |
OMIM:130000 |
Aarskog-Scott Syndrome |
|
Umbilical hernia, Inguinal hernia, Camptodactyly of finger |
ORPHA:915 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Congenital... |
OMIM:616266 |
Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia |
OMIM:274400 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia |
ORPHA:2181 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Umbilical hernia, Joint contractu... |
OMIM:255800 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Acrocyanosis, Joint contracture of the 5th finger, Intention tremor |
OMIM:614407 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Jaundice, Petechiae, Dystonia |
OMIM:251290 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Umbilical hernia, Dystonia |
OMIM:616977 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Fatigable weakness of skeletal muscles, Cyanosis, Knee flexion contracture |
OMIM:617239 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Umbilical hernia, Inguinal hernia, Elbow contracture, Death in infancy |
OMIM:620275 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226313 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Arthrogryposis-like hand anomaly, Camptodactyly |
ORPHA:369891 |
Xp22.13P22.2 Duplication Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:284180 |
Snijders Blok-Campeau Syndrome |
|
Umbilical hernia, Inguinal hernia, Enamel hypoplasia |
OMIM:618205 |
Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:95716 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:329224 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Cutis marmorata, Death in childhood |
OMIM:612938 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Tremor, Death in childhood, Neonatal death, Umbilical hernia, Intention tremor |
OMIM:614052 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti |
ORPHA:254534 |
Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Cyanosis, Dystonia |
ORPHA:391428 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia |
OMIM:617751 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus |
ORPHA:335 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Dent Disease 2 |
|
Umbilical hernia |
OMIM:300555 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Opisthotonus, Cervical myelopathy |
OMIM:207950 |
Houge-Janssens Syndrome 3 |
|
Umbilical hernia, Inguinal hernia |
OMIM:618354 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Umbilical hernia |
ORPHA:500159 |
Young-Onset Parkinson Disease |
|
Short attention span, Frontal lobe dementia, Bradykinesia, Dementia, Gait imbalance, Cognitive im... |
ORPHA:2828 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Rin2 Syndrome |
|
Umbilical hernia, Bruising susceptibility |
ORPHA:217335 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Inguinal hernia, Joint contracture of the 4th finger, Joint contracture of the ... |
OMIM:618914 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Inguinal hernia, Bruising susceptibility |
OMIM:614170 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Hereditary Hyperekplexia |
|
Umbilical hernia, Hernia, Hiatus hernia |
ORPHA:3197 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Inguinal hernia, Dystonia, Flexion contracture, Elbow flexion contracture, Hand... |
OMIM:618947 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Smith-Kingsmore Syndrome |
|
Umbilical hernia, Diastasis recti |
OMIM:616638 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
Eosinophilic Fasciitis |
|
Fasciitis, Acrocyanosis, Cellulitis |
ORPHA:3165 |
Cantu Syndrome |
|
Umbilical hernia |
OMIM:239850 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Intra... |
OMIM:603194 |
Carpenter Syndrome |
|
Umbilical hernia |
ORPHA:65759 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:3218 |
Congenital Myasthenic Syndrome |
|
Fatigable weakness, Arthrogryposis multiplex congenita, Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness, Arthrogryposis multiplex congenita, Cyanosis |
ORPHA:98914 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Telangiectasia |
OMIM:612582 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Umbilical... |
ORPHA:2311 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dementia, D... |
ORPHA:309271 |
Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Inguinal hernia |
OMIM:252900 |
Pelger-Huet Anomaly |
|
Umbilical hernia |
OMIM:169400 |
Dravet Syndrome |
|
Cyanotic episode, Action tremor |
ORPHA:33069 |
Luo-Schoch-Yamamoto Syndrome |
|
Umbilical hernia |
OMIM:619460 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Diastasis recti, Large placenta, Flexion contracture, Camptodactyly... |
ORPHA:254528 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Petechiae, Telangiectasia |
ORPHA:93400 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Telangiectasia of the skin, Abnormal dental enamel morphology, Spin... |
ORPHA:2092 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Stillbirth |
OMIM:269250 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia |
ORPHA:530983 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
Mesomelia-Synostoses Syndrome |
|
Umbilical hernia |
ORPHA:2496 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia |
OMIM:615879 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive gait ataxia, Abnormal social behavior, Progressive psychomotor ... |
ORPHA:309263 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Umbilical hernia, Enamel hypoplasia, Hypocalcification of denta... |
ORPHA:3134 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Inguinal hernia, Widened atrophic scar, Poor wound healing, Elbow flexion contracture, Atypical s... |
ORPHA:1900 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Umbilical hernia, Telangiectasia of the skin |
ORPHA:85321 |
Pitt-Hopkins-Like Syndrome 1 |
|
Impaired social interactions, Ataxia, Progressive language deterioration, Attention deficit hyper... |
OMIM:610042 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Progeroid facial appearance, Prominent veins on trunk, Excessive ... |
ORPHA:2962 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Progeroid facial appearance, Fle... |
OMIM:208050 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Umbilical hernia, Diastasis recti |
OMIM:616579 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Atrophic scars, Umbilical hernia, Bruising susceptibility, Fragile skin |
OMIM:225410 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Umbilical hernia, Cutis marmorata |
OMIM:619758 |
Hurler-Scheie Syndrome |
|
Umbilical hernia, Inguinal hernia, Contracture of the distal interphalangeal joint of the fingers... |
OMIM:607015 |
Kniest Dysplasia |
|
Hip contracture, Umbilical hernia, Inguinal hernia |
OMIM:156550 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Carpenter Syndrome 1 |
|
Omphalocele, Spina bifida occulta, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:201000 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Umbili... |
OMIM:618651 |
Fg Syndrome Type 1 |
|
Umbilical hernia, Inguinal hernia, Progressive flexion contractures, Facial wrinkling |
ORPHA:93932 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Endove Syndrome, Limb-Brain Type |
|
Umbilical hernia |
OMIM:619218 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia |
ORPHA:93399 |
Synaptic Congenital Myasthenic Syndromes |
|
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... |
ORPHA:98915 |
Roifman-Chitayat Syndrome |
|
Umbilical hernia |
OMIM:613328 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Opisthotonus |
ORPHA:3304 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Fatigable weakness of skeletal musc... |
ORPHA:1320 |
Kleefstra Syndrome Due To A Point Mutation |
|
Umbilical hernia, Inguinal hernia |
ORPHA:261652 |
Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Chromosome 18Q Deletion Syndrome |
|
Tremor, Umbilical hernia, Inguinal hernia |
OMIM:601808 |
Osteogenesis Imperfecta, Type Xiii |
|
Umbilical hernia, Dentinogenesis imperfecta |
OMIM:614856 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Umbilical hernia, Hiatus hernia |
OMIM:619769 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
OMIM:222448 |
Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Spina bifida, Hernia, Umbilical hernia |
ORPHA:261318 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Umbilical hernia |
ORPHA:1778 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Inguinal hernia |
OMIM:601499 |
Macs Syndrome |
|
Umbilical hernia, Bruising susceptibility |
OMIM:613075 |
Down Syndrome |
|
Umbilical hernia, Prematurely aged appearance |
ORPHA:870 |
Gapo Syndrome |
|
Umbilical hernia, Prematurely aged appearance |
ORPHA:2067 |
Tetrasomy 5P |
|
Pericallosal lipoma, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis |
ORPHA:3309 |
9P13 Microdeletion Syndrome |
|
Umbilical hernia, Hand tremor |
ORPHA:324313 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:1292 |
Endove Syndrome, Limb-Only Type |
|
Umbilical hernia |
OMIM:619217 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia |
ORPHA:1770 |
Trichothiodystrophy |
|
Multiple joint contractures, Prematurely aged appearance, Absence of subcutaneous fat, Umbilical ... |
ORPHA:33364 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Choreoathetosis, Cyanosis, Opisthotonus |
OMIM:619580 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:1001 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Umbilical hernia, Inguinal hernia, Athetosis |
ORPHA:79351 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Prominent veins on trunk, Cellulitis, Umb... |
ORPHA:536532 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Inguinal hernia |
ORPHA:2505 |
Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, U... |
ORPHA:2990 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Inguinal hernia, Meningocele |
ORPHA:2789 |
Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226316 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Progeroid facial appearan... |
OMIM:613177 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia |
ORPHA:3079 |
Lateral Meningocele Syndrome |
|
Keloids, Umbilical hernia, Inguinal hernia, Meningocele |
OMIM:130720 |
Mucopolysaccharidosis, Type Ii |
|
Umbilical hernia, Inguinal hernia, Flexion contracture |
OMIM:309900 |
Scarf Syndrome |
|
Umbilical hernia, Inguinal hernia, Diastasis recti, Enamel hypoplasia |
OMIM:312830 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia |
ORPHA:404443 |
Hurler Syndrome |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Hernia |
OMIM:607014 |
Developmental And Epileptic Encephalopathy 95 |
|
Umbilical hernia, Inguinal hernia, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:618143 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia |
OMIM:614520 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Inguinal hernia |
OMIM:616028 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia, Joint contracture of ... |
OMIM:182212 |
Mucopolysaccharidosis Type 7 |
|
Umbilical hernia, Inguinal hernia |
ORPHA:584 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Obesity, Attention deficit hyperactivity disorder |
ORPHA:96263 |
Amme Complex |
|
Umbilical hernia, Inguinal hernia, Diastasis recti |
OMIM:300194 |
Immunodeficiency 49 |
|
Umbilical hernia |
OMIM:617237 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
Distal Deletion 3P |
|
Umbilical hernia, Inguinal hernia, Abnormal vestibulo-ocular reflex |
ORPHA:1620 |
Weaver Syndrome |
|
Inguinal hernia, Diastasis recti, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:277590 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:219100 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Abnormal social behavior, Progressive gait ataxia, Tip-toe gait, Gait ataxia |
ORPHA:309256 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Camptodactyly of finger |
ORPHA:896 |
Osteogenesis Imperfecta, Type Xviii |
|
Umbilical hernia |
OMIM:617952 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Facial wrinkling, Camptodactyly, Umbilical hernia, ... |
OMIM:305450 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Elbow flexion contracture, Spina bifida, Knee flexion contracture |
OMIM:613776 |
Mucopolysaccharidosis Type 3 |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Fatigable weakness of swallowing muscles |
ORPHA:581 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Umbilical hernia, Bilateral camptodactyly |
OMIM:619234 |
Menkes Disease |
|
Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical scarring of skin,... |
ORPHA:565 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia, Death in infancy |
ORPHA:2241 |
Fucosidosis |
|
Lipoatrophy, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Mucopolysaccharidosis, Type Vii |
|
Umbilical hernia, Flexion contracture, Diastasis recti |
OMIM:253220 |
Icf Syndrome |
|
Umbilical hernia |
ORPHA:2268 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia |
ORPHA:2095 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contractur... |
OMIM:265000 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:90673 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Umbilical hernia, Spina bifida occulta, Camptodactyly |
OMIM:235510 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... |
OMIM:608594 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia |
ORPHA:1555 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory impairment, Abnormal s... |
ORPHA:314647 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Umbilical hernia, Erythema, Flexion contracture, Stillbirth |
OMIM:308050 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Umbilical hernia, Intention tremor |
ORPHA:221139 |
Familial Visceral Myopathy |
|
Umbilical hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger |
ORPHA:2604 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Death in infancy, Shoulder flexion contracture, Blepharospasm, ... |
ORPHA:800 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:618454 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Erythema,... |
ORPHA:464 |
Mucolipidosis Ii Alpha/Beta |
|
Inguinal hernia, Diastasis recti, Myelopathy, Death in childhood, Camptodactyly, Umbilical hernia... |
OMIM:252500 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Classical Ehlers-Danlos Syndrome |
|
Inguinal hernia, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Incisional herni... |
ORPHA:287 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Inguinal hernia, Redundant umbilical skin, Atrophic scars, Umbilical hernia, Bruising susceptibility |
OMIM:614557 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Constricting Bands, Congenital |
|
Omphalocele, Encephalocele, Cleft upper lip, Cleft palate, Gastroschisis, Bladder exstrophy |
OMIM:217100 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Umbilical hernia, Camptodactyly |
OMIM:616331 |
Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... |
OMIM:269700 |
Shprintzen-Goldberg Syndrome |
|
Umbilical hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall musculature, Camptoda... |
ORPHA:2462 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Camptodactyly of finger, Abnormal dental enamel morphology |
ORPHA:2710 |
Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Fatigable weakness |
ORPHA:60025 |
Opitz Gbbb Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:300000 |
Hyperparathyroidism, Transient Neonatal |
|
Umbilical hernia, Inguinal hernia |
OMIM:618188 |
Distal Deletion 19P |
|
Keloids, Umbilical hernia, Vaginal hernia |
ORPHA:96129 |
Cantú Syndrome |
|
Umbilical hernia |
ORPHA:1517 |
Martin-Probst Syndrome |
|
Umbilical hernia, Telangiectasia |
OMIM:300519 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:90674 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Diastasis recti, Knee flexion contracture, Umbilical hernia, Te... |
ORPHA:576 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Scarring, Diastasis recti, Hiatus hernia, Atrophic scars, Distal arthrogryposis, Umbilical hernia... |
OMIM:601776 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia |
OMIM:301040 |
Thyroid Ectopia |
|
Umbilical hernia, Jaundice |
ORPHA:95712 |
3Mc Syndrome |
|
Umbilical hernia, Spina bifida occulta, Diastasis recti |
ORPHA:293843 |
Marshall-Smith Syndrome |
|
Omphalocele, Umbilical hernia, Death in childhood |
OMIM:602535 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Poor wound healing, Atypical scarring of skin, Umbilical hernia, Bruising suscep... |
ORPHA:536545 |
Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
Acromesomelic Dysplasia 4 |
|
Umbilical hernia |
OMIM:619636 |
Opitz Gbbb Syndrome |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:2745 |
Gapo Syndrome |
|
Umbilical hernia, Prominent scalp veins |
OMIM:230740 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Telangiectasia |
ORPHA:2038 |
Nicolaides-Baraitser Syndrome |
|
Inguinal hernia, Excessive wrinkled skin, Periorbital wrinkles, Umbilical hernia, Premature skin ... |
OMIM:601358 |
Autosomal Recessive Robinow Syndrome |
|
Umbilical hernia, Inguinal hernia, Camptodactyly of finger, Death in infancy |
ORPHA:1507 |
Ogden Syndrome |
|
Inguinal hernia, Torticollis, Prematurely aged appearance, Facial wrinkling, Jaundice, Minimal su... |
OMIM:300855 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Mucopolysaccharidosis, Type Vi |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Cervical myelopathy |
OMIM:253200 |
Craniofrontonasal Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
OMIM:304110 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... |
ORPHA:373 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Umbilical hernia, Inguinal hernia, Camptodactyly of finger |
ORPHA:1101 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:192430 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia |
OMIM:104350 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Umbilical hernia, Hiatus hernia |
OMIM:610199 |
Leukocyte Adhesion Deficiency Type Ii |
|
Umbilical hernia, Scarring |
ORPHA:99843 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Umbilical hernia, Camptodactyly, Contracture of the proximal interphalangeal joi... |
OMIM:280000 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Umbilical hernia |
OMIM:614501 |
Adnp Syndrome |
|
Umbilical hernia, Inguinal hernia |
ORPHA:404448 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis |
OMIM:619879 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Umbilical hernia, Choreoathetosis, Dystonia |
ORPHA:1934 |
Okur-Chung Neurodevelopmental Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:617062 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Umbilical hernia, Excessive wrinkled skin, Camptodactyly of finger |
ORPHA:920 |
Meester-Loeys Syndrome |
|
Poor wound healing, Camptodactyly, Umbilical hernia, Joint contracture, Bruising susceptibility |
OMIM:300989 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Acrocyanosis, Cutis marmorata, Purpura |
ORPHA:183 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Impaired social interactions, Attention deficit hyperactivity disorder,... |
ORPHA:177907 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis |
ORPHA:555874 |
Hajdu-Cheney Syndrome |
|
Umbilical hernia, Inguinal hernia, Hernia |
ORPHA:955 |
Cat Eye Syndrome |
|
Umbilical hernia |
OMIM:115470 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Umbilical hernia, Omphalocele |
ORPHA:2166 |
Hunter-Macdonald Syndrome |
|
Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Camptodactyly |
OMIM:611962 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Umbilical hernia, Inguinal hernia |
OMIM:268310 |
Alpha-Mannosidosis, Infantile Form |
|
Umbilical hernia |
ORPHA:309282 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe |
OMIM:608328 |
Monosomy 9Q22.3 |
|
Umbilical hernia |
ORPHA:77301 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Inguinal hernia, Abnormal dental enamel morphology, Atypical scarring of skin, ... |
ORPHA:534 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia |
OMIM:301066 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Spina bifida, Meningocele, Occipital myelomen... |
ORPHA:567 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Acrocallosal Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:200990 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Hair-pulling, Socially inappropriate behavior, Weight loss, B... |
ORPHA:2388 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
Meier-Gorlin Syndrome 6 |
|
Umbilical hernia |
OMIM:616835 |
Poems Syndrome |
|
Acrocyanosis, Lipodystrophy |
ORPHA:2905 |
Autosomal Dominant Robinow Syndrome |
|
Umbilical hernia, Inguinal hernia, Femoral hernia, Camptodactyly of finger |
ORPHA:3107 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Progressive gait ataxia, Dementia, Gait disturbance... |
ORPHA:646 |
Isolated Cleft Lip |
|
Umbilical hernia |
ORPHA:199302 |
Hajdu-Cheney Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:102500 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Perianal erythema, Ectodermal dysplasia, Death in... |
OMIM:308205 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdominal wall musculature,... |
ORPHA:285 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Umbilical hernia |
OMIM:266920 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cutis marmorata, Lipoatrophy, Tremor, Prolonged neonatal jaundice, P... |
ORPHA:51 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis |
OMIM:252010 |
Esophageal Atresia |
|
Omphalocele, Cyanosis |
ORPHA:1199 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Umbilical hernia |
OMIM:618164 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226307 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Lipodystrophy, Excessive skin wrinkling on dorsum of hands and fingers, Prominen... |
ORPHA:2834 |
Branchioskeletogenital Syndrome |
|
Umbilical hernia, Bladder exstrophy, Periorbital wrinkles |
ORPHA:1299 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:618846 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, My... |
OMIM:305600 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Hardikar Syndrome |
|
Umbilical hernia, Jaundice, Bladder exstrophy, Prolonged neonatal jaundice |
OMIM:301068 |
Osteogenesis Imperfecta |
|
Inguinal hernia, Abnormal dental enamel morphology, Flexion contracture, Umbilical hernia, Bruisi... |
ORPHA:666 |
Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
Mucopolysaccharidosis Type 2 |
|
Contractures of the large joints, Inguinal hernia, Umbilical hernia, Flexion contracture of digit |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Camptodactyly of finger |
ORPHA:217085 |
Tarp Syndrome |
|
Cyanosis |
ORPHA:2886 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Camptodactyly of finger |
ORPHA:217093 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Inguinal hernia, Neural tube defect, Camptodactyly |
ORPHA:798 |
Tolchin-Le Caignec Syndrome |
|
Umbilical hernia, Diastasis recti |
OMIM:618971 |
Fanconi Anemia |
|
Umbilical hernia, Spina bifida |
ORPHA:84 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Abdominal wall defect |
ORPHA:96191 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363958 |
Catel-Manzke Syndrome |
|
Umbilical hernia, Inguinal hernia, Camptodactyly |
OMIM:616145 |
Cardiac Diverticulum |
|
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti |
ORPHA:1686 |
Zimmermann-Laband Syndrome 1 |
|
Umbilical hernia, Spina bifida occulta |
OMIM:135500 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, U... |
ORPHA:116 |
Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
Robinow Syndrome |
|
Umbilical hernia |
ORPHA:97360 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplan... |
OMIM:278250 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
Aneurysm-Osteoarthritis Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Atypical scarring of skin, Uterine prolapse, Umbilical ... |
ORPHA:284984 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Myelomeningocele, Cyanosis |
OMIM:306955 |
Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Cutis marmorata, Congenital diaphragmatic hernia, Umbilical hernia, Spina bifida... |
OMIM:135900 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
Williams Syndrome |
|
Death in early adulthood, Inguinal hernia, Prematurely aged appearance, Abnormal dental enamel mo... |
ORPHA:904 |
Tetrasomy 9P |
|
Umbilical hernia, Jaundice, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:3310 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Umbilical hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Congenital diaphragmatic he... |
OMIM:600001 |
Fraser Syndrome |
|
Encephalocele, Omphalocele, Death in infancy, Myelomeningocele, Umbilical hernia |
ORPHA:2052 |
Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:613884 |
Histiocytoid Cardiomyopathy |
|
Cyanosis |
ORPHA:137675 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent umbilicus, Prominent superficial blood vessels, Cyanosis, Absence of subcutaneous fat, ... |
ORPHA:740 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:1519 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Hiatus hernia |
ORPHA:2896 |
Mend Syndrome |
|
Failure to thrive, Abnormal social behavior |
ORPHA:401973 |
Cohen-Gibson Syndrome |
|
Umbilical hernia, Flexion contracture, Camptodactyly |
OMIM:617561 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia |
OMIM:218700 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Spina bifida, Stillbirth, Umbilical hernia |
OMIM:304120 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Acrocyanosis, Cellulitis, Cutaneous photosensitivity, Chond... |
ORPHA:221 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Ataxia |
OMIM:616393 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Umbilical hernia, Inguinal hernia |
OMIM:180700 |
Microphthalmia, Syndromic 2 |
|
Umbilical hernia, Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contr... |
OMIM:300166 |
Carpenter Syndrome 2 |
|
Umbilical hernia, Camptodactyly, Knee flexion contracture |
OMIM:614976 |
Liver Disease, Severe Congenital |
|
Umbilical hernia, Inguinal hernia, Jaundice |
OMIM:619991 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Umbilical hernia, Hernia, Congenital diaphragmatic hernia |
ORPHA:2255 |
Congenital Tracheomalacia |
|
Cyanosis |
ORPHA:95430 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Umbilical hernia, Dystonia |
OMIM:620330 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
Monosomy 22Q13.3 |
|
Umbilical hernia |
ORPHA:48652 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Cyanosis |
OMIM:212093 |
Loeys-Dietz Syndrome 2 |
|
Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Camptodactyly |
OMIM:610168 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Ankle flexion contracture, Tremor, Bilateral camptodactyly, Fle... |
ORPHA:821 |
Floating-Harbor Syndrome |
|
Umbilical hernia, Inguinal hernia |
OMIM:136140 |
Aspartylglucosaminuria |
|
Umbilical hernia, Inguinal hernia, Vascular skin abnormality |
ORPHA:93 |
Loeys-Dietz Syndrome 3 |
|
Inguinal hernia, Cystocele, Atrophic scars, Camptodactyly, Uterine prolapse, Umbilical hernia, Br... |
OMIM:613795 |
Omodysplasia 1 |
|
Umbilical hernia |
OMIM:258315 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Hypocapnia |
ORPHA:980 |
Menke-Hennekam Syndrome 1 |
|
Umbilical hernia, Inguinal hernia, Flexion contracture |
OMIM:618332 |
Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Peters Plus Syndrome |
|
Umbilical hernia, Inguinal hernia, Spina bifida occulta |
ORPHA:709 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Prematurely aged appearance, Telangiectasia of the skin, Aplasia/Hypoplasia of t... |
ORPHA:286 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Digeorge Syndrome |
|
Umbilical hernia, Inguinal hernia, Femoral hernia |
OMIM:188400 |
Williams-Beuren Syndrome |
|
Premature graying of hair, Umbilical hernia, Inguinal hernia, Flexion contracture |
OMIM:194050 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Umbilical hernia, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia |
OMIM:312870 |
Viss Syndrome |
|
Inguinal hernia, Prominent superficial blood vessels, Umbilical hernia, Bruising susceptibility, ... |
OMIM:619472 |
Pallister-Hall Syndrome |
|
Umbilical hernia, Inguinal hernia, Distal arthrogryposis |
ORPHA:672 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:805 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
Neuroocular Syndrome |
|
Umbilical hernia |
OMIM:619539 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Postinfectious Vasculitis |
|
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin |
ORPHA:48435 |
Peters-Plus Syndrome |
|
Umbilical hernia, Diastasis recti |
OMIM:261540 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Coffin-Lowry Syndrome |
|
Uterine prolapse, Inguinal hernia, Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Charge Syndrome |
|
Omphalocele, Umbilical hernia |
OMIM:214800 |
Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:97214 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly... |
OMIM:601803 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia |
OMIM:107480 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling |
ORPHA:447997 |
Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis |
ORPHA:99125 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:619157 |