| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Facial palsy, Dysphagia |
OMIM:617732 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy, Furrowed tongue |
OMIM:155900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Scoliosis, Recur... |
OMIM:300624 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Kyphoscoliosis, Congestive heart failure, Abnormal ... |
ORPHA:3077 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... |
ORPHA:252164 |
| Megalencephaly |
|
Macroorchidism, Atrial septal defect, Long penis, Short neck |
ORPHA:2477 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Impaired tem... |
ORPHA:353253 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Ankle clonus, Optic atrophy, Bifid uvula, Cleft palate |
OMIM:618768 |
| Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Abnormality of the vestibulo... |
ORPHA:268882 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Tremor, Chorea, Optic atrophy, Dysphagia, Focal dystonia, Compulsive... |
ORPHA:216873 |
| Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, D... |
OMIM:201550 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Camptodactyly of finger, Cleft lip, Increased nuchal translucency, ... |
OMIM:619110 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... |
DECIPHER:39 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Cleft pa... |
OMIM:311895 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Congestive heart failure, ... |
ORPHA:324410 |
| Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula, Attention deficit hyperactivity disorder |
OMIM:300850 |
| Fragile X Syndrome |
|
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Mitral valve p... |
ORPHA:908 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Lujan-Fryns Syndrome |
|
Macroorchidism, Atrial septal defect, Scoliosis, Attention deficit hyperactivity disorder |
ORPHA:776 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Polyhydramnios, Oral-pharyngeal dysphagia, Distal sensory impairment, Facial di... |
OMIM:616287 |
| Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Xp22.13P22.2 Duplication Syndrome |
|
Short neck, Polycystic ovaries, Scoliosis, Attention deficit hyperactivity disorder, Macroorchidism |
ORPHA:284180 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Kyphoscoliosis, Short neck, Scoliosis, Bruxism, Macroorchidism, Male hypogonadism |
OMIM:300055 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Dow... |
OMIM:619941 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Schwannoma, Abnormal glossopha... |
ORPHA:221098 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Cleft palate, Dysphagia, ... |
ORPHA:576283 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Dehydration, Choreoathetosis, Dystonia |
ORPHA:79312 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Velopharyngeal in... |
ORPHA:199306 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Dysphagia, Dehydration, Long philtrum |
OMIM:618958 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Velopharyngeal insufficiency, High palate |
OMIM:608363 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Self-injurious behavior, Everted lower lip vermilion, Scoliosis, Bifid uvula |
OMIM:617768 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Ankle clonus, Bifid uvula, Cleft palate |
ORPHA:506353 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:615942 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Horner syndrome... |
OMIM:141300 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Aggressive behavior, Abnormal repetitive mannerisms, Truncal ataxia, Dy... |
OMIM:619121 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Abnormal form of the vertebral bodies |
ORPHA:3104 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... |
OMIM:235200 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula |
OMIM:618658 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Familial Cold Urticaria |
|
Dysesthesia, Arthritis, Polydipsia, Dehydration |
ORPHA:47045 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Axonal degeneration, Scoliosis, Distal sensory impairment |
OMIM:616155 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... |
ORPHA:562 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Kyphoscoliosis, Carious teeth, Elbow flexion contracture, Dehydration,... |
OMIM:214150 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h... |
ORPHA:100083 |
| Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation... |
OMIM:182290 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Hyperactivity, Ventricular septal defect, Aggressive behavior, Compulsive b... |
OMIM:309520 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Lumb... |
OMIM:601492 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Scoliosis |
OMIM:618362 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology, Decreased... |
ORPHA:543 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Ataxia, Optic atrophy, Dehydration |
ORPHA:27 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Optic dis... |
OMIM:174300 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Tonne-Kalscheuer Syndrome |
|
Aggressive behavior, Tremor, Velopharyngeal insufficiency, Dysphagia, Downturned corners of mouth... |
OMIM:300978 |
| Distal Deletion 17Q |
|
Prominent metopic ridge, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, Optic atro... |
ORPHA:1597 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia, Kyphoscoliosis, Knee flexion contracture |
ORPHA:496689 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Ovoid thoracolumbar... |
OMIM:252920 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Cleft palate, Glossoptosis, Scoliosis, Oral synechia |
ORPHA:1388 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Optic disc coloboma,... |
ORPHA:92050 |
| Central Diabetes Insipidus |
|
Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Cleft palate, Dysmetria, Glosso... |
OMIM:618356 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autono... |
ORPHA:2483 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Facial palsy, Dysphagia |
OMIM:158900 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Scoliosis, Gait ataxia |
OMIM:616540 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis |
ORPHA:3055 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Furrowed tongue |
ORPHA:2743 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... |
ORPHA:649929 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
| Stickler Syndrome, Type Ii |
|
Arthropathy, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula |
OMIM:604841 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramnios, Optic disc ... |
ORPHA:1790 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Gl... |
OMIM:620269 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration, Dystonia |
ORPHA:289504 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Cleft upper lip, Aggressive behavior, Cleft palate, Scoliosis, Bifid uvula |
OMIM:300958 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... |
ORPHA:90674 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Self-mutilation, Thick lower lip vermilion, Optic atrophy, Or... |
OMIM:123450 |
| Solar Urticaria |
|
Edema, Periorbital edema, Abnormal tongue morphology, Angioedema, Abnormal lip morphology |
ORPHA:97230 |
| Trisomy 20P |
|
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Vertebr... |
ORPHA:261318 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo... |
OMIM:614669 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia |
ORPHA:99772 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
| Reticular Dysgenesis |
|
Dehydration, Malabsorption |
ORPHA:33355 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Cleft lip, Narrow mouth, Cleft palate, Downturned corners of mouth, Everted lower ... |
OMIM:618089 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Kyphosis, Abnormal heart morpholog... |
ORPHA:352490 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
| Enteric Anendocrinosis |
|
Dehydration, Malabsorption |
ORPHA:83620 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo... |
ORPHA:88628 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Ataxia, Dysmetria, Hand tremor, Limb ataxia, Dysphagia, Tongue fasciculations, He... |
ORPHA:276198 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hip subluxation, Agenesis of mandibular central incisor, 4-5 metacarpal synostosis, Hip dislocati... |
OMIM:268305 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Mitral valve prolapse |
OMIM:618874 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Dysphagia... |
ORPHA:530 |
| Bilateral Polymicrogyria |
|
Wide mouth, Facial diplegia, Abnormal glossopharyngeal nerve morphology, Pseudobulbar paralysis, ... |
ORPHA:268940 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Tongue atrophy, Somatic sensor... |
ORPHA:101085 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Absent uvula, Knee flexion contracture |
OMIM:616531 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration |
OMIM:616069 |
| Harlequin Ichthyosis |
|
Eclabion, Self-injurious behavior, Dehydration |
ORPHA:457 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior... |
ORPHA:2131 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial palsy, Hyperlordosis, Facial diplegia, High palate, Narrow mouth, Bifid u... |
ORPHA:169186 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Sagittal cranio... |
ORPHA:2872 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Ataxia, Facial palsy, Kyphosis, Truncal ataxia, Dysphagia, Ankle clonus, Tongue f... |
OMIM:211530 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Intestina... |
OMIM:615237 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia |
ORPHA:858 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
| Autosomal Agammaglobulinemia |
|
Arthritis, High palate, Dehydration, Malabsorption |
ORPHA:33110 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... |
ORPHA:137888 |
| Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide... |
OMIM:618779 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Optic disc coloboma, Aplasia of... |
OMIM:615948 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... |
OMIM:618652 |
| Whistling Face Syndrome, Recessive Form |
|
Kyphoscoliosis, Whistling appearance, Elbow flexion contracture, Knee flexion contracture, High p... |
OMIM:277720 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Osteoarthritis, Cleft palate, Long philtrum |
ORPHA:166100 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Camptodactyly of finger, Kyphoscoliosis, Dental malocclusion, Irregula... |
OMIM:612350 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Kyphosis, Deep philtrum, Cleft palate, Downturn... |
ORPHA:404440 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, High palate, Bifid uvula, Narrow mouth |
OMIM:615959 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Ataxia, Dehydration, Death in childhood |
OMIM:560000 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
| Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Moebius Syndrome |
|
Abnormality of the dentition, Facial diplegia, Dysdiadochokinesis, High palate, Dysphagia, Bifid ... |
OMIM:157900 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testi... |
ORPHA:54251 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Dysphagia... |
OMIM:160900 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... |
ORPHA:83469 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
| Pleural Mesothelioma |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
| Temple Syndrome |
|
Polyphagia, Bifid uvula, Scoliosis |
ORPHA:254516 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the uvula, High, narrow palate, Genu valgum, Long ... |
ORPHA:2496 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Arrhythmia |
ORPHA:85447 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Optic atrophy, High palate, Joint contracture of the hand, Bifid uvula |
OMIM:601110 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Na... |
ORPHA:54028 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Dehydration |
OMIM:610600 |
| Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous cleft soft palate, ... |
OMIM:612292 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Bilateral cleft lip, Deep... |
OMIM:618622 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Ring Chromosome 22 Syndrome |
|
Edema, Lymphedema, Protruding tongue, Impaired pain sensation, Neurofibroma, Gait ataxia, Inappro... |
ORPHA:1446 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophi... |
ORPHA:353298 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... |
OMIM:619151 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Camptodactyly of finge... |
OMIM:114300 |
| Congenital Myopathy 8 |
|
Congestive heart failure, Scoliosis, Cardiomegaly |
OMIM:618654 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Enlarged joints, Lumbar hyperlordosis, Polyhydramnios, Osteoarthri... |
ORPHA:1427 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosple... |
OMIM:209950 |
| Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Dehydration, Malabsorption |
ORPHA:213 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Impaired pain sensation, Increased nuchal translucency... |
ORPHA:453499 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... |
ORPHA:465508 |
| Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Abnormal glossopharyngeal nerve morp... |
ORPHA:297 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, Furrowed tongue, High palate, Short philtrum, Scoliosis, Everted lower lip vermili... |
ORPHA:1387 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... |
ORPHA:99330 |
| Lamellar Ichthyosis |
|
Everted lower lip vermilion, Dehydration, Abnormality of the dentition |
ORPHA:313 |
| Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Biconvex vertebral bodies, Ventricular septal defect,... |
OMIM:616651 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... |
OMIM:612840 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes |
OMIM:269920 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
| Alg3-Cdg |
|
Macroglossia, Abnormal uvula morphology, High palate, Dystonia |
ORPHA:79321 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Orofaciodigital Syndrome Type 14 |
|
Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palate, Aplasia of the e... |
ORPHA:434179 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Ataxia, Limb ataxia, Gait ataxia, Dysphagia, Tongue fasciculations, Truncal ataxia |
OMIM:614153 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion contracture, Dysphagia,... |
OMIM:619708 |
| Dend Syndrome |
|
Downturned corners of mouth, Prominent metopic ridge, Dehydration, Long philtrum |
ORPHA:79134 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:100025 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Facial palsy, Hyperlordosis, High, narrow palate, Submucous cleft hard... |
ORPHA:2780 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Malabsorption |
OMIM:606824 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Cleft palate, High palate, Short philtrum, Scoliosis, Narrow mouth, Bifid uvula |
ORPHA:96184 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Burn-Mckeown Syndrome |
|
Cleft upper lip, Cleft palate, Thin vermilion border, Short philtrum, Narrow mouth, Bifid uvula |
OMIM:608572 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Stickler Syndrome, Type I |
|
Arthropathy, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft ... |
OMIM:108300 |
| Temple Syndrome |
|
Cleft palate, Short philtrum, High palate, Scoliosis, Bifid uvula |
OMIM:616222 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Coronal craniosynostosis, Optic disc coloboma, Aglossia |
OMIM:241310 |
| White-Sutton Syndrome |
|
Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Cleft palate, Hypoplastic cervical ve... |
OMIM:616364 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Congenital hip dislocation, Dental crowding, Kyphoscoliosis, Submucous... |
ORPHA:96170 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Protruding tongue, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blephar... |
ORPHA:53351 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h... |
OMIM:614701 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... |
OMIM:612938 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Congesti... |
ORPHA:85450 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... |
OMIM:613443 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchidism, Leuk... |
ORPHA:99812 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Protruding tongue, Optic atrophy, Gingival overgrowth, Dysphagia, Hypoplastic vertebral b... |
OMIM:230600 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Edema, Dehydration, Agitation, Oral aversion |
ORPHA:134 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Polyhydramnios, Supernumerary tooth, Aplasia of the ep... |
OMIM:617088 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... |
ORPHA:335 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue, Hamartoma... |
ORPHA:2930 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Compulsive behaviors, Abn... |
ORPHA:534 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Mitral regurgitation, Platyspondyly, Spondylolysi... |
OMIM:208400 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Dehydration |
ORPHA:556030 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Sacral dimple, Hypospadias, Truncus arteriosus, Ventricular septal defect, Cryptor... |
OMIM:617516 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ... |
OMIM:607812 |
| Angelman Syndrome Due To A Point Mutation |
|
Ataxia, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced ... |
ORPHA:411511 |
| Hydrolethalus |
|
Polyhydramnios, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, ... |
ORPHA:2189 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... |
OMIM:609981 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Ataxia, Anteriorly placed anus, Downturned cor... |
ORPHA:247262 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom... |
OMIM:300280 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vertebral segmen... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vertebral segmen... |
ORPHA:352665 |
| 49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hyperactivity, Ataxia, Protruding tongue, Tremor, Abnormal eati... |
ORPHA:98794 |
| Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... |
ORPHA:989 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:300510 |
| Zimmermann-Laband Syndrome |
|
Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocclusion, Macrog... |
ORPHA:3473 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... |
OMIM:618886 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... |
ORPHA:100080 |
| Carey-Fineman-Ziter Syndrome |
|
Laryngeal stenosis, Facial palsy, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft ... |
ORPHA:1358 |
| Pai Syndrome |
|
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology |
ORPHA:1993 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Impulsivity, Hyperlordosis, Precocious puberty, Short neck, Agitation, Attention d... |
OMIM:619950 |
| Meacham Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abn... |
ORPHA:3097 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Polyhydramnios, Tremor, Dehydration, Opisthotonus, Choreoathetosis, Dystonia |
OMIM:616271 |
| Limb-Mammary Syndrome |
|
Hypodontia, Joint contracture of the hand, Bifid uvula, Cleft palate |
OMIM:603543 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Propionic Acidemia |
|
Dehydration, Dystonia |
OMIM:606054 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... |
OMIM:620141 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Tachycardia, Hyperactivity, Decreased response to growth hormone stimulation test, B... |
ORPHA:485405 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Cryptorchid... |
OMIM:305400 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytope... |
ORPHA:277 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Macroorchidism, Beak... |
ORPHA:93 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Neuhauser Syndrome |
|
Genu recurvatum, Ataxia, Dysphagia, Genu valgum, High palate, Long philtrum, Bifid uvula |
OMIM:249310 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... |
OMIM:614034 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hyper... |
OMIM:252900 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... |
ORPHA:507 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glo... |
ORPHA:3201 |
| Tarp Syndrome |
|
Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, Athetosis, High palate, Neonatal death... |
OMIM:311900 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... |
ORPHA:228402 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... |
OMIM:603903 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Lumbar hyperlordosis, Facial palsy, Elbow flexion contracture, Thoracic kyphosis,... |
OMIM:617114 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Velopharyngeal insufficiency, Non-midline cleft... |
ORPHA:199302 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Optic atrophy, Hydrops fetalis, Dehydration, Stomatitis, Glossitis, Peripheral demyelinat... |
ORPHA:79282 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Short neck, Lymphadenopathy, Hepatosplenomegaly, Mitral regurgitation, Scolios... |
OMIM:619750 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmet... |
OMIM:252930 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
| Cold Agglutinin Disease |
|
Back pain, Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
| Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Attention deficit hyperactivity disorder, Narrow mouth |
OMIM:164220 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Hydrops fetalis, Cleft palate, Flat acetabular roof, Agenesi... |
OMIM:614091 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow mouth, Microglossia, Polyhydramnios, Abnormal cranial nerve morphology |
ORPHA:990 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Optic at... |
ORPHA:99956 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Neoplasm of the thymus, Splenomega... |
ORPHA:744 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Juvenile Sialidosis Type 2 |
|
Ataxia, Protruding tongue, Optic atrophy, Gingival overgrowth, Dysmetria, Abnormal form of the ve... |
ORPHA:93399 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Genu valgum, Abnormal optic disc morphology, Contracture of the proximal interphalangeal joint of... |
ORPHA:293967 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Limited knee f... |
OMIM:615065 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Thoraci... |
ORPHA:2752 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Cleft upper lip, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth... |
OMIM:129400 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome... |
ORPHA:824 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Hemivertebrae, Abn... |
ORPHA:2759 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... |
ORPHA:97287 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
| Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Ataxia, Protruding tongue, Tremor, Aggressive behavior, Tongue ... |
ORPHA:72 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Cleft upper lip, Tremor, Chorea, Optic atrophy, Cleft palate, Downturne... |
OMIM:601808 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Dehydration |
ORPHA:2290 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Long uvula, Phalangeal dislocation, Kyphoscoliosis, Impair... |
ORPHA:536532 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... |
ORPHA:100082 |
| Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Carious teeth, Alveolar ridge overgrowth, Cleft palate, Microdontia of ... |
ORPHA:177907 |
| Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Facial palsy, Intestinal malrotation, Cleft palate, High palate, Incr... |
OMIM:113650 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ataxia, Dysmetria, Scoliosis, Ankyloglossia, Intention tremor |
OMIM:619352 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
| Desbuquois Dysplasia 2 |
|
Lumbar hyperlordosis, Dental crowding, Radial head subluxation, Hip dislocation, Advanced ossific... |
OMIM:615777 |
| W Syndrome |
|
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Cubitus va... |
ORPHA:2804 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Dental crowding, Facial palsy, Delayed closure of the anterior fontan... |
OMIM:300373 |
| Tularemia |
|
Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, ... |
ORPHA:3392 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Short neck, Cryptorchi... |
OMIM:614294 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Dehydration, Oligohydramnios |
OMIM:208085 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphadenopathy, Lymphocyt... |
OMIM:308240 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Protruding tongue, Prominent crus of helix, Chorea, Bruxism, Stereotypical hand wringing,... |
OMIM:617804 |
| Netherton Syndrome |
|
Dehydration, Malabsorption |
ORPHA:634 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Prominent metopic ridge, Peripheral axonal neuropathy, Ataxia, Dehydration, Downturned corners of... |
ORPHA:99885 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kyphosis, Pierre-Robin sequ... |
OMIM:183900 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... |
ORPHA:363444 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hyperactivity, Hypospadias, Ventricular septal defect, Short neck, Precocio... |
ORPHA:254346 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Polyhydramnios, Velopharyngeal insufficiency, High palate, Short philtru... |
OMIM:617746 |
| Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Pericardial effusion, Cardiomegaly, Cu... |
OMIM:239850 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Esophageal varix, Dehydration, Oligohydramnios |
OMIM:263200 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly... |
ORPHA:79330 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, High, narrow palate... |
OMIM:614816 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Optic disc coloboma, High palate, Bifid uvula |
OMIM:300472 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
| Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hydrops fetalis, Hypodontia, Microglossia, Ascites, Enamel ... |
OMIM:253250 |
| Oligomeganephronia |
|
Polydipsia, Optic disc coloboma, Dehydration |
ORPHA:2260 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Trident pelvis, Kyphoscoliosis, Cleft palate |
OMIM:614815 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Peripheral axonal neuropathy, Tented upper lip vermilion, Death in infancy, Pr... |
OMIM:618580 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Craniosynostosis, Optic atrophy, Gingival overgrowth, Narrow palate, Anteriorly plac... |
OMIM:123790 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Spinal canal stenosis, Congenital ... |
OMIM:614613 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Tremor, Chorea, Dehydration, Agitation, Abnormal autonomic nervous system phys... |
ORPHA:94093 |
| Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Facial palsy, Cleft palate, Tooth agenesis, H... |
ORPHA:570 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Angelman Syndrome |
|
Hyperactivity, Ataxia, Protruding tongue, Limb tremor, Wide mouth, Macroglossia, Progressive gait... |
OMIM:105830 |
| Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Optic atrophy, Cervical C5/C6 vertebrae fusion, Na... |
ORPHA:87 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion |
OMIM:613680 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... |
ORPHA:97289 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Pericardial effusion, Pri... |
ORPHA:2905 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Hip dislocation, Cleft palate, Microglossia |
OMIM:241800 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormality of the vertebral column |
OMIM:601076 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Hyperactivity, Abnormality of the dentition, Wide mouth, Thick vermilion border, Bifid uvula |
OMIM:618505 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy... |
OMIM:601005 |
| Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:612561 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Gait ataxia, Opist... |
OMIM:619580 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue, Olig... |
ORPHA:2167 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... |
ORPHA:276 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Delayed peripheral ... |
ORPHA:364577 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Abnormal rep... |
OMIM:615802 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Impaired pain sensation, ... |
ORPHA:870 |
| Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Opisthotonus, Choking episodes |
OMIM:620352 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Paresth... |
OMIM:175500 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Anorexia, Tremor, Dehydration, Compulsive behaviors, Dystonia, Abnormal temper tantrums, ... |
ORPHA:3008 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
| Proteus-Like Syndrome |
|
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, L... |
ORPHA:520 |
| Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Abnormality of the testis size, Abnormal heart morphology, Ovarian cy... |
ORPHA:400 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis |
OMIM:620285 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Edema, Protruding tongue, Optic atrophy, Gingival overgrowth, Dysmetria, Ascites |
ORPHA:93400 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingi... |
ORPHA:2753 |
| H Syndrome |
|
Diabetes mellitus, Microcytic anemia, Abnormal cardiovascular system physiology, Amenorrhea, Lymp... |
ORPHA:168569 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Short neck, Micropenis, Platyspondyly, Hype... |
OMIM:616897 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Cleft lip, Cleft palate, Submucous cleft of soft and hard... |
OMIM:301022 |
| Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Optic atrophy, Bifid uvula, Cleft palate |
ORPHA:899 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... |
OMIM:604757 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Splenomegaly, Th... |
ORPHA:525731 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... |
OMIM:617022 |
| Satoyoshi Syndrome |
|
Hyperlordosis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
ORPHA:3130 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Vertebral segmentation... |
ORPHA:531151 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Ataxia, Edema, Dehydration |
ORPHA:20 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Shigellosis |
|
Anorexia, Intestinal perforation, Ulcerative colitis, Dehydration, Paralytic ileus, Arthritis, Ac... |
ORPHA:810 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Hydrops fetalis, Dehydration, Death in childhood, Steat... |
OMIM:557000 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... |
ORPHA:100075 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Polyhydramnios, Genu valgum, Platyspo... |
ORPHA:93316 |
| Marshall-Smith Syndrome |
|
Craniosynostosis, Protruding tongue, Optic atrophy, Gingival overgrowth, Scoliosis, Open mouth |
ORPHA:561 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Carious teeth, Glossoptosis, Platyspondyly, Delayed ossification o... |
ORPHA:93346 |
| Legionnaires Disease |
|
Pericarditis, Anorexia, Splenomegaly, Myocarditis, Endocarditis, Lymphadenopathy, Bone marrow hyp... |
ORPHA:549 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
| Meckel Syndrome 12 |
|
Antecubital pterygium, Bifid uvula, Oligohydramnios |
OMIM:616258 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Craniosynostosis, Polyhydramnios, Deep philtrum... |
OMIM:617506 |
| Au-Kline Syndrome |
|
Prominent metopic ridge, Thoracolumbar scoliosis, Sagittal craniosynostosis, Craniosynostosis, De... |
OMIM:616580 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... |
OMIM:601186 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia |
OMIM:202650 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytope... |
OMIM:613179 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Pain insensitivity, Hyperactivity, Restlessness, Aggressive behavior, D... |
OMIM:300534 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Lumbar hyperlordosis, Dental crowding, Hyperlordosis, Ag... |
OMIM:616078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Dental crowding, Kyphoscoliosis, High, narrow palate, Thick lower lip vermilion, Cleft palate, Sh... |
OMIM:309583 |
| Amish Lethal Microcephaly |
|
Death in infancy, Optic atrophy, Cleft soft palate |
ORPHA:99742 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Adrenal overacti... |
ORPHA:139411 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Gingival overgrowth, Dehydration, Macroglossia, High palate, Oligohydramnios |
ORPHA:96191 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Carcinoid Syndrome |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart ... |
ORPHA:100093 |
| Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... |
OMIM:230000 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Cleft palate, Opisthoto... |
ORPHA:2671 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Scolios... |
OMIM:617600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Meckel Syndrome, Type 10 |
|
Bifid uvula, Cleft palate |
OMIM:614175 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Congestive heart... |
OMIM:615895 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Thoracic scoliosis, Selective tooth agenesis, Dental malocclusion, Paresthesia, Hypodontia, Bifid... |
ORPHA:2959 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abnormal repetitive manne... |
ORPHA:449291 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Kyphosis, Hemivertebrae, Tracheoesophageal fistula, Hip disloca... |
ORPHA:958 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
| Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Lymphadenopathy |
ORPHA:79455 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
| Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Lymphadenopathy, Hepatosplenom... |
ORPHA:1333 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
| Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal ly... |
ORPHA:39041 |
| Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration |
ORPHA:171876 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... |
ORPHA:47612 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Cardiomegaly, Hypertension, Pulmonary arterial hypertension, Dysplastic sacrum, Sever... |
OMIM:613320 |
| Velocardiofacial Syndrome |
|
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... |
OMIM:192430 |
| Apert Syndrome |
|
Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, E... |
OMIM:101200 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Cleft palate, High palate, Abnormality of the ankle,... |
ORPHA:1307 |
| Charge Syndrome |
|
Delayed eruption of teeth, Facial palsy, Polyhydramnios, Cleft upper lip, Abnormal soft palate mo... |
ORPHA:138 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal bursts of laughter |
ORPHA:391428 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m... |
OMIM:618529 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Dehydration |
OMIM:259900 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Pancreatic endocrine tumor, Cranial nerve compression, In... |
ORPHA:652 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproli... |
ORPHA:79456 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Orofacial cleft, Cleft palate, Abnormal oral fren... |
ORPHA:1752 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Thoracolumbar kyphoscoliosis, Protruding tongue, Diastema, Aggressive behavior, Ging... |
OMIM:212066 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Dehydration |
ORPHA:230 |
| Agel Amyloidosis |
|
Tongue atrophy, Ataxia, Facial palsy, Edema, Xerostomia, Blepharochalasis, Orthostatic hypotensio... |
ORPHA:85448 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Kyphoscoliosis, Abnormality of the ... |
OMIM:616331 |
| Wolcott-Rallison Syndrome |
|
Ascites, Dehydration |
ORPHA:1667 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Dehydration |
OMIM:619377 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Cleft palate |
OMIM:606164 |
| Marshall Syndrome |
|
Knee osteoarthritis, Thick lower lip vermilion, Pierre-Robin sequence, Cleft palate, Platyspondyl... |
OMIM:154780 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:98795 |
| Scrub Typhus |
|
Myocarditis, Splenomegaly, Hypotension, Lymphadenopathy |
ORPHA:83317 |
| Agammaglobulinemia, X-Linked |
|
Epididymitis, Cor pulmonale, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutrop... |
OMIM:300755 |
| Pagod Syndrome |
|
Sudden cardiac death, Situs inversus totalis, Abnormality of the spleen, Agonadism, Hypoplastic l... |
ORPHA:991 |
| Vipoma |
|
Anorexia, Malabsorption, Dehydration, Ascites, Ganglioneuroma |
ORPHA:97282 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Smooth philtrum, Thin upper lip vermilion, Thoracic scoliosis, Kyphoscoliosis, Pierre-Robin seque... |
OMIM:611209 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, High palate, Short philtrum, Tics, Compulsive behaviors, Abnormal repetitive... |
OMIM:619475 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... |
OMIM:615108 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Abnormal cardiac septum morphology, Aplasia of the uterus, Scoliosis, T... |
ORPHA:3320 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ... |
ORPHA:381 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Enlarged joints, Ovoid vertebral bodies, Impaired pain sensation, ... |
OMIM:601559 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... |
ORPHA:829 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Scoliosis, Cardiomegaly |
ORPHA:3137 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Vasculitis, Abnormal sacroiliac joint morphol... |
ORPHA:32960 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Thin vermilion border, Bifid uvula, Long philtrum |
OMIM:241410 |
| Branchioskeletogenital Syndrome |
|
Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscoliosis, Craniosynostosis, A... |
ORPHA:1299 |
| Methylmalonic Aciduria, Cbla Type |
|
Tremor, Dehydration |
OMIM:251100 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| 15Q Overgrowth Syndrome |
|
Smooth philtrum, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crow... |
ORPHA:314585 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Abnormal dental enamel morphology, High, narrow palate, Kyphosis, Submucous cleft h... |
ORPHA:2658 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Abnormality of the dentition, Hip dislocation, Cleft palate, Scoliosis, Long phi... |
OMIM:300968 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Increased nuchal translucency, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
| Sifrim-Hitz-Weiss Syndrome |
|
Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Wormian bones, Bifid uvula |
OMIM:617159 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Flexion ... |
ORPHA:466768 |
| Frontometaphyseal Dysplasia |
|
Subglottic stenosis, Limitation of movement at ankles, Interphalangeal joint contracture of finge... |
ORPHA:1826 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath... |
ORPHA:36412 |
| Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abn... |
ORPHA:247768 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Protruding tongue, Aggressive behavior, Macroglossia, ... |
OMIM:610253 |
| Hartnup Disease |
|
Ataxia, Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... |
OMIM:615109 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidis... |
ORPHA:514 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Thro... |
ORPHA:50918 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Abnormal autonomic nervous syste... |
ORPHA:1051 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosple... |
OMIM:618935 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Cholera |
|
Miscarriage, Dehydration |
ORPHA:173 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Facial palsy, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Scoliosis, Dysphagi... |
OMIM:254940 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Internal hemorrhag... |
ORPHA:99827 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Hyperlordosis, Spinal rigidity, Right bundle branch block, Reduced le... |
ORPHA:268 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
| Elsahy-Waters Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Supernumerary tooth, Agenesis... |
OMIM:211380 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Ataxia, Protruding tongue, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue |
ORPHA:1839 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Adenoiditis, Splenomegaly, Aggressive behavior, Recurr... |
ORPHA:581 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Inappropriate laughter, Scoliosis |
OMIM:618143 |
| Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Hip contracture, Congenital hip dislocation, Pyloric stenosis, Deep philtrum... |
OMIM:617137 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Distal Duplication 17Q |
|
Accessory spleen, Hyperactivity, Cryptorchidism, Abnormal heart morphology, Scoliosis |
ORPHA:3379 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Exaggerate... |
OMIM:608670 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Angioedema, Intestinal atresia |
OMIM:256500 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Thin upper lip vermilion, Pain insensitivity, Dystonia, Nail-biting, Optic nerve hypoplasia, Aggr... |
OMIM:620330 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate, Short philtrum,... |
OMIM:616449 |
| Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula, Butterfly vertebrae |
OMIM:617660 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediasti... |
ORPHA:809 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mou... |
OMIM:301030 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... |
ORPHA:781 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Pearson Syndrome |
|
Ataxia, Hydrops fetalis, Dehydration, Dysphagia, Corneal stromal edema, Steatorrhea, Median cleft... |
ORPHA:699 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Thoracol... |
OMIM:268310 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hyperactivity, Carious teeth, Velopharyngeal insufficiency, Submucous ... |
OMIM:223370 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Myhre Syndrome |
|
Submucous cleft hard palate, Gingival cleft, Cleft palate, Platyspondyly, Abnormal lip morphology... |
ORPHA:2588 |
| Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Kyphosis, Submucous cleft hard palate, Optic atro... |
OMIM:617140 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Vertebral segmentation ... |
ORPHA:1507 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Cuboid-shaped ... |
ORPHA:1517 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Hemivertebrae, Aplasia ... |
OMIM:271520 |
| Giant Cell Arteritis |
|
Ataxia, Anorexia, Optic atrophy, Arthritis, Paresthesia, Glossitis |
ORPHA:397 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Delayed cranial su... |
ORPHA:2457 |
| Oeis Complex |
|
Absence of the sacrum, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Ves... |
OMIM:258040 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Anorexia, Heart murmur, ... |
ORPHA:100079 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Raynaud phenomenon, Increased ... |
OMIM:607944 |
| Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude of sensory a... |
ORPHA:2388 |
| Nephroblastoma |
|
Hypertension, Lymphadenopathy |
ORPHA:654 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia |
ORPHA:223 |
| Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Progressive ... |
ORPHA:168572 |
| Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Aganglionic megacolon, Cleft upper lip, Velopharyngeal insufficiency, Hip di... |
OMIM:154400 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
| Desmosterolosis |
|
Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:35107 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Intussusception, Acute co... |
ORPHA:90038 |
| Orofaciodigital Syndrome Type 6 |
|
Ataxia, Hamartoma of tongue, Tremor, Cleft palate, Midline notch of upper alveolar ridge, Lobulat... |
ORPHA:2754 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Polyhydramnios, Cleft hard ... |
OMIM:300990 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
| Microsporidiosis |
|
Glossitis, Dehydration, Anorexia |
ORPHA:2552 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Flat acetabular roof, Cleft palate, Incomplete cleft... |
OMIM:616300 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Alg9-Cdg |
|
Smooth philtrum, Thin upper lip vermilion, Prominent metopic ridge, Villous atrophy, Torticollis,... |
ORPHA:79328 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natu... |
ORPHA:158061 |
| Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Ataxia, Tarsal synostosis, Hamartoma of tongue, Abnormal dental enamel morpholo... |
ORPHA:2750 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Transient ischemic attack, Anorexia, Hypersplenism, Splenomegaly, Leu... |
ORPHA:1304 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Velopharyngeal insufficiency, Dental malocclusion, Gingival overgrowth... |
OMIM:209885 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Intercrura... |
OMIM:119500 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Prominent metopic ridge, Ataxia, Craniosynostosis, Edema, Accessory oral frenulum, Wide mouth, Ma... |
OMIM:266920 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Dysphagia, High palate, Solitary median maxillar... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Dysphagia, High palate, Solitary median maxillar... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Dysphagia, High palate, Solitary median maxillar... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Hip dislocation, Cleft palate, Dysphagia, High palate, Solitary median maxillar... |
ORPHA:220386 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Decreased e... |
ORPHA:2686 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Bilateral camptodactyly, Chorea, Elbow flexion con... |
OMIM:619777 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Mediastinal lymphadenopathy, Diffuse alveolar he... |
ORPHA:199241 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... |
OMIM:304790 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Congenital hip dislocation, Cleft soft palate, Polyhydramnios, Carious teeth, Clef... |
OMIM:117650 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
| Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Lumbar scoliosis, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Thoracic scoliosis, Natal tooth, Facial palsy, Polyhydramnios, Carious ... |
OMIM:620186 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Kyphosis, Flat aceta... |
ORPHA:94068 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Kyphosis, Pyloric stenosis, Submucous cleft hard palate, Abnormal form o... |
ORPHA:2461 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
| Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy, Dysphagia, Megaloblastic anemia |
OMIM:300322 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Ataxia, Polyhydramnios, Protruding tongue, High palate, Scoliosis, Atte... |
OMIM:617062 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology, Edema, Esophageal st... |
ORPHA:79404 |
| Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis |
OMIM:620232 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Vasculitis, Lymphadenopathy |
ORPHA:343 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Short neck, Bone marrow hypocellularity, Aplasia of the uterus, Attention def... |
OMIM:614083 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Thoracolumbar scoliosis, High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, ... |
ORPHA:436003 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... |
OMIM:158350 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis, Anorexia |
ORPHA:90045 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothy... |
OMIM:617713 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating splenomegaly, Fluctuating hepatomegaly... |
OMIM:610377 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Protruding tongue, High, narrow palate, Dysphagia, Death in childhood, Macrogl... |
OMIM:214100 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Abnormal repetitive mannerisms, Thick lower lip vermi... |
OMIM:619297 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Exaggerated cupid's bow, Unilateral facial palsy, Thick vermilion border, Scoliosis,... |
OMIM:619480 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Ky... |
ORPHA:464738 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Cardiac arrest, Myocarditis, Thyroiditis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... |
OMIM:201475 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiom... |
OMIM:252500 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypothyroidism |
ORPHA:349 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Scoliosis, Long philtrum, Stereotypical hand wringing |
OMIM:619179 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Cleft upper lip, Pierre-Robin sequence, Cleft palate, Genu valgum, Glossoptosi... |
OMIM:616145 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Elbow dislocation, High, narrow palate, Submucous clef... |
ORPHA:2554 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Arterial Tortuosity Syndrome |
|
Hiatus hernia, High palate, Scoliosis, Long philtrum, Bifid uvula |
OMIM:208050 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Lymphadenopathy, Iron deficien... |
ORPHA:100078 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Abnormal form of the vertebral bodies, Advanced eruption of teeth, Abnormal denta... |
ORPHA:818 |
| Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
| Tarp Syndrome |
|
Pierre-Robin sequence, Optic atrophy, Alveolar ridge overgrowth, Cleft palate, Tongue nodules, Gl... |
ORPHA:2886 |
| Gracile Bone Dysplasia |
|
Death in infancy, Ascites, Ankyloglossia |
OMIM:602361 |
| Meckel Syndrome 14 |
|
Tricuspid regurgitation, Short neck, Mitral regurgitation, Aplasia of the uterus, Ambiguous genit... |
OMIM:619879 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Edema, Hamartoma of tongue, Polyhydramnios... |
OMIM:269860 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
| Holoprosencephaly 3 |
|
Solitary median maxillary central incisor, Cleft lip, Bifid uvula, Cleft palate |
OMIM:142945 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... |
OMIM:214500 |
| Lysosomal Acid Lipase Deficiency |
|
Ascites, Esophageal varix, Dehydration, Steatorrhea |
ORPHA:275761 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thrombocytopenia |
OMIM:608013 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
| Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Vasculitis, Lymphadenopathy, Arrhythmia |
ORPHA:342 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Protruding tongue, Hyperlordosis, Macroglossia, Scoliosis, Dysphagia, Open mouth, C... |
ORPHA:258 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly |
ORPHA:2463 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic... |
ORPHA:93552 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... |
OMIM:130650 |
| Marburg Hemorrhagic Fever |
|
Shock, Lymphopenia, Reticulocytosis, Pericarditis, Tachycardia, Back pain, Anorexia, Aggressive b... |
ORPHA:99826 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Protruding tongue, Diastema, Kyphosis, Thick lower lip vermilion, Hemivertebrae, ... |
OMIM:301040 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Short neck... |
OMIM:300855 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Genu recurvatum, Phalangeal dislocation, Craniosynostosis, Cleft palate, Radio... |
OMIM:130070 |
| Coffin-Siris Syndrome 12 |
|
Facial palsy, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Ridged c... |
OMIM:619325 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Enamel hypomineralization, Dehydration, Malabsorption |
ORPHA:47159 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
| Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Cranio... |
OMIM:602535 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Eosinophilia, Abnormality of the endocrine system, Abnor... |
ORPHA:228123 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Impaired pain sensation, Elbow flexion con... |
ORPHA:3206 |
| Congenital Disorder Of Glycosylation, Type It |
|
Pierre-Robin sequence, Bifid uvula, Cleft palate |
OMIM:614921 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis, Arthritis, Malabsorption |
ORPHA:47 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Pierre-Robin sequence, Cleft palat... |
ORPHA:90652 |
| Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Hyperactivity, Aganglionic megacolon, Intestinal malrotation, Dental crowding, ... |
OMIM:270400 |
| Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanen... |
OMIM:616894 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Cleft upp... |
OMIM:607872 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta |
OMIM:617466 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration, Paresthesia, Polydipsia, Chondrocalcinosis |
OMIM:241200 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Polyhydramnios, Wide mouth, Narrow mouth, Bifid uvula, Long philtrum |
OMIM:222470 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Hyperactivity, Increas... |
OMIM:609152 |
| Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Raine Syndrome |
|
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
| Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:18 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Camptodactyly of finger, Abnormal form of the vertebral bodies, Cleft palat... |
ORPHA:2839 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:603553 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Genu valgum, Dysphagia, Polydipsia |
OMIM:219800 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hip dislocation, Cervical C5/C6 vertebrae f... |
OMIM:613458 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Right ventricular failure, Heart m... |
ORPHA:100085 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Irregularity of vertebral bodies, Abnormal heart valve morphology, A... |
ORPHA:580 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Scoliosis, Protruding tongue |
OMIM:614325 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia |
OMIM:267700 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Raynaud phenomenon, Paratracheal lymphadenopathy, Telangiectasia, Leukope... |
OMIM:615934 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopat... |
ORPHA:538 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Camptodactyly of finger, Hyperlordosis, High, narrow palate, Pyloric st... |
ORPHA:261330 |
| Chand Syndrome |
|
Ataxia, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of... |
ORPHA:1401 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy |
OMIM:142680 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
| Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... |
OMIM:617099 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... |
ORPHA:273 |
| Frontorhiny |
|
Lumbar hyperlordosis, Camptodactyly of finger, Cleft palate, Scoliosis, Bifid tongue |
ORPHA:391474 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Un... |
OMIM:200600 |
| Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Hyperlordosis, Kyp... |
ORPHA:653 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Mitral valve pr... |
OMIM:620233 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum, Oligohydramnios |
ORPHA:293725 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Prominent metopic ridge, Tremor, Thick lower lip vermilion, Self-injuri... |
OMIM:612474 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Acetabular spurs, Sco... |
OMIM:613091 |
| Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Cleft lip, Optic atrophy, Furrowed tongue, High palate, Broad alveolar ridg... |
OMIM:616975 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Sagittal craniosynostosis, Optic at... |
ORPHA:500150 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Generalized Pustular Psoriasis |
|
Arthritis, Geographic tongue, Cheilitis, Pedal edema |
ORPHA:247353 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, High palate, Short philtrum, ... |
OMIM:300963 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Ventricular septal defect, Precoc... |
OMIM:194190 |
| Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Elbow dislocation, High, narrow palate, Abnormality of the gingiva, Open... |
ORPHA:3107 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Scoliosis, Unic... |
OMIM:614527 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
| Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Hip dislocation, Tracheoesophageal fistul... |
ORPHA:84 |
| Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Dehydration, Steatorrhea |
OMIM:219700 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Kyphoscoliosis, Persistence of primary teeth, Hemivert... |
ORPHA:97360 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Junctional ectopic tachycard... |
OMIM:309801 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Enamel hypoplasia... |
ORPHA:2363 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... |
ORPHA:284984 |
| Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Paresthesia, Chondrocalcinosis, Dehydration |
OMIM:601678 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Aplasia of the... |
ORPHA:2879 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
| Orofaciodigital Syndrome Type 10 |
|
Tarsal synostosis, Cleft soft palate, Accessory oral frenulum, Long philtrum, Metatarsal synostosis |
ORPHA:2756 |
| Tetrasomy 9P |
|
Joint dislocation, Hyperactivity, Dental crowding, Abnormal dental enamel morphology, Cleft palat... |
ORPHA:3310 |
| Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Oral leukoplakia |
OMIM:148210 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,... |
OMIM:245600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... |
OMIM:274000 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... |
ORPHA:2907 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Prominent metopic ridge, Craniosynostosis, Cleft lip, Tracheoesophageal fistula, Cle... |
ORPHA:2745 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
| Mesomelia-Synostoses Syndrome |
|
Polyhydramnios, Absent uvula, Carpometacarpal synostosis, Tarsometatarsal synostosis, Metacarpal ... |
OMIM:600383 |
| Ring Chromosome 7 Syndrome |
|
Prominent crus of helix, Cleft palate, Genu valgum, Thin vermilion border, Lumbar kyphoscoliosis,... |
ORPHA:1449 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Primary amenorrhea, Lymp... |
OMIM:619418 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud p... |
ORPHA:3260 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Kyphosis, Cleft palate, Glossoptosis, Short hard palate |
ORPHA:1393 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233710 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... |
ORPHA:805 |
| Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Abnormal dental enamel morphology, Cleft upper lip, Open ... |
ORPHA:828 |
| Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Pericardial effusion, Splenomegaly, Throm... |
ORPHA:167 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Chroni... |
ORPHA:51 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal form of... |
ORPHA:904 |
| Malakoplakia |
|
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle, Follicular hyperplasia |
ORPHA:556 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac... |
OMIM:608836 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Broad uvula, Bifid uvula, Cl... |
OMIM:619472 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:233690 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Limited elbow extension and supination, Thin upper lip vermilion, Shor... |
OMIM:180700 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal p... |
ORPHA:449432 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Cubitus valgus, High palate, Bifid uvula, Dental malocclusion |
OMIM:601552 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
| Graft Versus Host Disease |
|
Hemophagocytosis, Tachycardia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
| Distal Deletion 12Q |
|
Hyperactivity, Median cleft lip, Kyphoscoliosis, Impaired pain sensation, High, narrow palate, Es... |
ORPHA:96149 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Hyperlordosis, Vasculitis, Shortened PR in... |
ORPHA:365 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Lymphop... |
ORPHA:1572 |
| Trisomy 8P |
|
Malrotation of small bowel, Metopic suture patent to nasal root, Cleft palate, Thin vermilion bor... |
ORPHA:264450 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Palpebral edema, Ataxia, Protruding tongue, Deep philtrum, Gingival overgro... |
ORPHA:99843 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Polyhydramnios, Submucous cleft hard palate, Bifid uvula, Neoplasm of th... |
ORPHA:3047 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Optic atrophy, Genu valgum, Do... |
OMIM:619321 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aplasia of the vagina, Scoliosis, Aplasia of the uterus |
ORPHA:457284 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Congestive heart failure,... |
OMIM:256040 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Abnormality of the Leydig cells, Testicula... |
ORPHA:3063 |
| Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Ov... |
ORPHA:137605 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly |
ORPHA:158687 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Ataxia, Kyphoscoliosis, Cleft palate, Knee flexion contracture, Downturned corne... |
ORPHA:488642 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Camptodactyly of finger, Craniosynostosis, Orofacial cleft, High palate, Scoli... |
ORPHA:60030 |
| Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Radial head subluxation, Hemivertebrae, Hip dislocation, Cleft pala... |
OMIM:146510 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Hypothyroidi... |
ORPHA:116 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Kyphoscoliosis, Protruding t... |
OMIM:309580 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Dysphagia, Narrow mouth, ... |
ORPHA:89842 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Thick vermilion border, Narrow mouth, Smooth philtrum |
OMIM:608779 |
| Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue, Dysmetria, Facial diplegia, Pseudobulbar paralysis, Dysphagia |
ORPHA:98889 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Cousin Syndrome |
|
Dislocation of the femoral head, Humeroradial synostosis, Alveolar ridge overgrowth, Cleft palate... |
OMIM:260660 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hemolyt... |
ORPHA:797 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Multiple Myeloma |
|
Splenomegaly, Vertebral compression fracture, Anemia, Lymphadenopathy |
ORPHA:29073 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Raynaud phenomenon, Ly... |
ORPHA:331235 |
| 1Q21.1 Microdeletion Syndrome |
|
High palate, Attention deficit hyperactivity disorder, Scoliosis, Ankyloglossia, Long philtrum |
ORPHA:250989 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Fetal ascites, Deep philtrum, Multiple joint dislocation, Knee flexion contractu... |
OMIM:619503 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... |
ORPHA:37042 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Septo-optic dysplasia, Polyhydramnios, Aggressive behavior, Agenesis of... |
OMIM:619841 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
| Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Platyspondyly, Long philtrum, Sy... |
ORPHA:50945 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ataxia, Cleft soft palate, Aggressive behavior, Pyloric stenosis, Kyphosis, Supernumerary tooth, ... |
ORPHA:268261 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Optic atrophy, Cleft palate, Furrowed tongue, Oligohydramnios |
ORPHA:564 |
| Meester-Loeys Syndrome |
|
Joint dislocation, High palate, Bifid uvula, Gingival overgrowth |
OMIM:300989 |
| Farber Disease |
|
Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:333 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Pla... |
OMIM:263520 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Congestive heart fai... |
ORPHA:14 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Craniosynostosis |
OMIM:601374 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Humeroradial synostosis, Hemivertebrae, Elbow flexion contracture, ... |
OMIM:151050 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pericardial effusion, ... |
OMIM:615846 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Hypospadias, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Kypho... |
OMIM:135900 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
| Digeorge Syndrome |
|
High, narrow palate, Cleft palate, High palate, Patellar dislocation, Scoliosis, Short philtrum, ... |
OMIM:188400 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cystocele, Arte... |
OMIM:130050 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve... |
ORPHA:93311 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Death in infancy, Craniosynostosis, Protruding tongue, High, narrow pal... |
OMIM:612289 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive mannerisms, Bifid uvula, ... |
ORPHA:261537 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Widely spaced teeth, Abnormal repetitive mannerisms, Bifid uv... |
ORPHA:2152 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lymphadenopath... |
ORPHA:2331 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome... |
OMIM:181000 |
| African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Abnormal EKG, Abnormality of the menstrual cycle, Abnormality of the ... |
ORPHA:3385 |
| Pallister-Hall Syndrome |
|
Natal tooth, Accessory oral frenulum, Cleft lip, Radial head subluxation, Paroxysmal bursts of la... |
ORPHA:672 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macrogl... |
ORPHA:444077 |
| Neuroocular Syndrome |
|
Genu recurvatum, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely sp... |
OMIM:619539 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Bifid uvula, Agenesis of permanent teeth |
OMIM:181270 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Ly... |
ORPHA:509 |
| Holoprosencephaly 2 |
|
Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral cleft lip and palate, Scoli... |
OMIM:157170 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis |
OMIM:306400 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroidi... |
ORPHA:449563 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadeno... |
OMIM:619381 |
| Loeys-Dietz Syndrome 1 |
|
Craniosynostosis, Eosinophilic infiltration of the esophagus, Cleft palate, Scoliosis, Bifid uvula |
OMIM:609192 |
| Cowden Syndrome |
|
Ataxia, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorectal... |
ORPHA:201 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Submucous cleft hard palate, Cleft palate, Abnormal form of the ve... |
ORPHA:2636 |
| Frontofacionasal Dysplasia |
|
Bifid uvula, Orofacial cleft, Cleft upper lip |
OMIM:229400 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Hip dislocation, Cleft palate, Genu valgu... |
ORPHA:1596 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive mannerisms, Bifid uvula, ... |
ORPHA:261552 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Raynaud phenomenon, Thrombocytopenia, Vasculitis, Thyroiditis... |
ORPHA:289390 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
| Loeys-Dietz Syndrome 3 |
|
Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, Osteoarthritis... |
OMIM:613795 |
| Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Ly... |
ORPHA:2136 |
| Glucagonoma |
|
Intestinal obstruction, Anorexia, Steatorrhea, Stomatitis, Ascites, Glossitis |
ORPHA:97280 |
| Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Anal stenosis, Death in infancy, Dental crowding, Cleft ... |
ORPHA:2052 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
| Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Intestinal malro... |
OMIM:249000 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Pulmonary arter... |
ORPHA:667 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100086 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Self-injurious behavior, Uterine rupture, Erectile dysfunction... |
ORPHA:649 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Cleft soft palate, Kyphoscoliosis |
OMIM:614557 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters |
ORPHA:79396 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Short neck, Cryptorchidism, Transposition of the great a... |
OMIM:256520 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Tented upper lip vermilion, Polyhydramni... |
OMIM:601803 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Thyroiditis, Ly... |
ORPHA:449395 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
ORPHA:572333 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pilonidal sinus, Small scrotum, Hypospadias, Short neck, Cryptorchidism, Hemivertebrae, Anteriorl... |
OMIM:276820 |
| Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, Cleft palate, ... |
OMIM:610168 |
| Blau Syndrome |
|
Pericarditis, Splenomegaly, Large vessel vasculitis, Lymphadenopathy, Hypertension, Pulmonary art... |
ORPHA:90340 |
| Degcags Syndrome |
|
Jejunal atresia, Craniosynostosis, Protruding tongue, Hiatus hernia, Pyloric stenosis, Polyhydram... |
OMIM:619488 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt... |
OMIM:107480 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
| Microphthalmia, Syndromic 6 |
|
Cleft palate, High palate, Lambdoidal craniosynostosis, Microglossia, Bifid uvula |
OMIM:607932 |
| Peters Plus Syndrome |
|
Sacral dimple, Hypospadias, Short neck, Cryptorchidism, Bicuspid pulmonary valve, Congenital hypo... |
ORPHA:709 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d... |
OMIM:203500 |
| Plague |
|
Chapped lip, Edema, Anorexia, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of... |
ORPHA:707 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... |
ORPHA:79078 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Hypertension, Thrombocytopenia |
ORPHA:536 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Shallow acetabular fos... |
OMIM:190685 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature loss... |
ORPHA:3455 |
| Hardikar Syndrome |
|
Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal va... |
OMIM:301068 |
| Diamond-Blackfan Anemia |
|
Nonimmune hydrops fetalis, Cleft soft palate, Cleft lip, High palate, Adenocarcinoma of the colon |
ORPHA:124 |
| Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard... |
ORPHA:51608 |
| Sillence Syndrome |
|
Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral dis... |
ORPHA:3168 |
| Chikungunya |
|
Raynaud phenomenon, Cervical lymphadenopathy, Epistaxis, Lymphadenopathy |
ORPHA:324625 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Polyhydramnios, Submucous cleft lip, De... |
OMIM:312870 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Short nec... |
OMIM:261540 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Dysphagia, Narrow mou... |
ORPHA:79408 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Delayed eruption of teeth, Dental crowding, Short lingual frenu... |
ORPHA:740 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic atta... |
ORPHA:286 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Hydrops fetalis, Ectopic anus, Absent or minimally ossified ... |
ORPHA:93271 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Ankyloglossia, Scoliosis |
OMIM:619525 |
