Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Growth delay |
OMIM:246500 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia, Chronic mucocutaneous candidiasis, Recurrent viral... |
OMIM:114580 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Death in childhood, Acrocyanosis, Abnormality of the nail |
OMIM:302000 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... |
OMIM:612444 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad... |
ORPHA:52901 |
Spermatogenic Failure 28 |
|
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... |
OMIM:618086 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ... |
ORPHA:499 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... |
OMIM:612650 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Cryptorchidism, Bulbous nose, Increased circulating gonadotropin level, Hypogonadi... |
OMIM:300869 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis |
OMIM:618801 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Decreased nasal n... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615500 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... |
OMIM:617091 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absent pubic hair, De... |
OMIM:614841 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615504 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, D... |
OMIM:616481 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Recurrent l... |
OMIM:616726 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:615505 |
Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Immotile cil... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Short stature, Widow's peak, Sparse hair, Intrauterine growth retardation, Thick eyebrow |
OMIM:606242 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... |
OMIM:616022 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... |
OMIM:614874 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Allergic rhinitis, Abnormalit... |
ORPHA:90368 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... |
OMIM:614897 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
X-Linked Intellectual Disability, Van Esch Type |
|
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Agammaglobulinemia... |
OMIM:300400 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Short stature, Prominent nasal bridge, Cryptorchidism, Increased ... |
ORPHA:163971 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature |
OMIM:188150 |
Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Recurrent skin infections, Bri... |
OMIM:256500 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... |
OMIM:617092 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Short stature, Sparse eyebrow, Hyp... |
ORPHA:1882 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy... |
OMIM:603554 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Yellow nails, Dyspne... |
ORPHA:662 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... |
ORPHA:572 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:66628 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormo... |
OMIM:275400 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula... |
OMIM:273250 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b... |
ORPHA:202 |
Syndromic X-Linked Intellectual Disability 7 |
|
Short stature, Sparse body hair |
ORPHA:85274 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... |
OMIM:308700 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea |
OMIM:617577 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Depressed nasal bridge, Recur... |
OMIM:614941 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tissue, Failure... |
ORPHA:337 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... |
ORPHA:90793 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Hurler-Scheie Syndrome |
|
Rhinitis, Short stature, Generalized hirsutism |
ORPHA:93476 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... |
ORPHA:2251 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Depressed nasal br... |
ORPHA:432 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Short stature, Abnormal dental enamel morphology, Lipoatrophy, Cachexi... |
ORPHA:1133 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... |
ORPHA:486 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Alopecia, Streak ovary, Sparse eyebrow, Cryptorchi... |
ORPHA:2232 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Aplasia/H... |
ORPHA:2930 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... |
ORPHA:183675 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... |
OMIM:242670 |
Ane Syndrome |
|
Alopecia, Decreased serum insulin-like growth factor 1, Short stature, Decreased response to grow... |
ORPHA:157954 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Immunodeficiency 102 |
|
Recurrent skin infections, Hypothyroidism, Severe varicella zoster infection, Recurrent upper res... |
OMIM:301082 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, De... |
OMIM:618300 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Alopecia, Atrophic gastritis, Recurrent skin infections, Chro... |
OMIM:616576 |
Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Paronychia, Uveitis, Otitis media, Male infe... |
ORPHA:125 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Ige Responsiveness, Atopic |
|
Asthma, Eczema, Allergic rhinitis |
OMIM:147050 |
Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Intrauterine growth retardation, Severe short stature |
OMIM:618724 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... |
OMIM:619924 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Recurrent upper respira... |
ORPHA:261534 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Short stature |
OMIM:619985 |
Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Short stature, Abnormal eyelash morphology, Sparse hair, Sparse... |
ORPHA:1006 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Lo... |
ORPHA:3363 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Weight loss, Incr... |
ORPHA:100024 |
Xq27.3Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Short stature, Sparse body hair |
ORPHA:261483 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... |
ORPHA:47612 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Sparse hair |
ORPHA:2985 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
ORPHA:169154 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Growth delay, Nail dystrophy, Anonychia, Sparse body hair |
ORPHA:79402 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... |
ORPHA:346 |
Alpha-Heavy Chain Disease |
|
Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Anemia |
ORPHA:100025 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Hypergonadotropic hypogonadism, Abnormal nasal morpho... |
ORPHA:2850 |
Carboxypeptidase N Deficiency |
|
Allergic rhinitis |
OMIM:212070 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Death in child... |
OMIM:619164 |
Primary Ciliary Dyskinesia |
|
Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polypo... |
ORPHA:244 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Recurrent bacterial infections, Melanin pigment aggregation in hair shafts |
OMIM:607624 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... |
ORPHA:2325 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Growth delay, Nail dystroph... |
ORPHA:1867 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing hormone level, Spa... |
ORPHA:3044 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... |
ORPHA:129 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... |
OMIM:618987 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Paronychia, Recurrent candida infections, Hypogonadism, Decreased serum testostero... |
OMIM:201100 |
Congenital Short Bowel Syndrome |
|
Sparse hair, Short stature |
ORPHA:2301 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased circulating ferritin concen... |
OMIM:619313 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Anosmia, Bronchiectasis, Immotile cilia, Chronic rh... |
OMIM:244400 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Onychomycosis, Recurrent otitis me... |
OMIM:614468 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral c... |
ORPHA:99429 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen concentration, Short stat... |
ORPHA:90796 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Wide nose, Alopecia, Osteomyelitis, Eczema, Recurrent skin infe... |
OMIM:618282 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... |
OMIM:614868 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Increased circulating gonadotropin level, Recurrent upper respira... |
ORPHA:99330 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly... |
OMIM:602450 |
Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic pulm... |
OMIM:618131 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic meningitis, Re... |
ORPHA:95512 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Decreased response to gr... |
OMIM:307200 |
Eosinophilopenia |
|
Allergic rhinitis |
OMIM:131430 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Neonatal asphyxia, Asthma, Erythroderma, Alopecia of scalp |
OMIM:608649 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Chronic lymphocytic meningitis, Re... |
ORPHA:95513 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Short stature, Skin rash, Abnormal hair morphology, Abnormality of t... |
ORPHA:317 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Short stature, Low posterior hairline |
ORPHA:2183 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... |
OMIM:615513 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Severe short stature, Diabetes mellitus, Cachexia, Growt... |
ORPHA:3242 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... |
ORPHA:755 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... |
OMIM:300310 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Severe postnatal growth retardation, Alopecia, Severe short stature, Prominent nose |
OMIM:203550 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Premature ovarian insufficiency, Short stature, Hypergonadotropic hypogonadism, Recurre... |
ORPHA:2959 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Recu... |
ORPHA:293978 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Restrictive ventilatory defect, Nail dy... |
OMIM:615704 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Aarskog-Scott Syndrome |
|
Decreased serum testosterone concentration, Short stature, Anteverted nares, Elevated circulating... |
OMIM:305400 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:618723 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... |
OMIM:613493 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia totalis, D... |
OMIM:615577 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... |
OMIM:243150 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... |
ORPHA:169079 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... |
ORPHA:83471 |
Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Short stature, Cachexia |
ORPHA:2471 |
Wolman Disease |
|
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Adrenal insu... |
ORPHA:75233 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Diabetes mellitus,... |
ORPHA:168569 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:241080 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insufficiency, T... |
ORPHA:2047 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Short stature... |
OMIM:208900 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair, Short stature |
OMIM:618681 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye... |
ORPHA:50944 |
Paroxysmal Hemicrania |
|
Focal sensory seizure with olfactory features, Diabetes mellitus, Rhinitis, Rhinorrhea |
ORPHA:157835 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Primary amenorrhea, Increased ser... |
ORPHA:247768 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... |
ORPHA:98813 |
Classic Mycosis Fungoides |
|
Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Abnormality of the nail |
ORPHA:2584 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... |
OMIM:608184 |
Filippi Syndrome |
|
Postnatal growth retardation, Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Hy... |
OMIM:272440 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone sti... |
ORPHA:3464 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis, White hair, Thick eyebrow |
ORPHA:896 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... |
ORPHA:3143 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Eczema, Postnatal growth retardation... |
OMIM:618985 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Short stature, Acne, Premature thelarche, Isosexu... |
ORPHA:90795 |
Majeed Syndrome |
|
Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytos... |
ORPHA:77297 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair |
ORPHA:1839 |
Immunodeficiency 84 |
|
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Failure to thrive, Short stature, Abnormality of... |
ORPHA:47 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:1883 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Alopecia, Short stature, Depressed nasal bridge, Und... |
ORPHA:85202 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Short stature, Ab... |
ORPHA:2963 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Depressed na... |
OMIM:305100 |
Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Osteoporosis, Increased bone density with cystic change... |
OMIM:136300 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, T lymp... |
ORPHA:277 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... |
OMIM:240500 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Menorrhagia |
OMIM:617443 |
Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Immunodeficiency 9 |
|
Death in infancy, Failure to thrive, Hypoplasia of the thymus, Amelogenesis imperfecta |
OMIM:612782 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Alopecia, Severe short stature, Thick nasal alae, Anteverted nares, Curly ey... |
ORPHA:3051 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Short stature, Spa... |
OMIM:300953 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... |
ORPHA:69735 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis |
OMIM:613502 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... |
OMIM:612692 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair |
OMIM:613576 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... |
OMIM:610921 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Flexion contracture, Cachexia |
ORPHA:157973 |
Christianson Syndrome |
|
Death in early adulthood, Cachexia, Arthrogryposis multiplex congenita, Thick eyebrow |
ORPHA:85278 |
Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth delay, Sparse or absent eyelash... |
ORPHA:217346 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Short stature, Elevated circulating creatine kinase concentration, Generalized hirsutism |
ORPHA:1933 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Mediastinal lymphadenopathy, Ovarian neo... |
ORPHA:83469 |
Omenn Syndrome |
|
Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopat... |
ORPHA:39041 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... |
OMIM:618048 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
46,Xy Partial Gonadal Dysgenesis |
|
Vanishing testis, Decreased serum estradiol, Male infertility, Streak ovary, Elevated circulating... |
ORPHA:251510 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... |
ORPHA:33355 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619989 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R... |
OMIM:607594 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Short stature, Inguinal hernia, Increased mean platelet v... |
ORPHA:84064 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Anauxetic Dysplasia 2 |
|
Short stature, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth retardation |
OMIM:617396 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Ectodermal dysplasia |
OMIM:273390 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Sepsis, Ad... |
ORPHA:2552 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Prematurely aged appearance, Abnormal hair pattern, Highly arched eyebrow... |
ORPHA:1807 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa, Intrauterine growt... |
OMIM:614602 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Short stature, Anteverted nares, Wide nasal bridge, Intrauterine growth r... |
ORPHA:50812 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Short stature, Limb joint contracture, Hypogonadot... |
OMIM:612079 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomeli... |
OMIM:215100 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... |
OMIM:612843 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Osteoporosis... |
OMIM:615830 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight |
ORPHA:1672 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... |
ORPHA:60033 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ... |
OMIM:304790 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair |
ORPHA:177 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine growth retardati... |
OMIM:616353 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:616819 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Short stature, Eczema... |
ORPHA:443811 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Failure to thrive in infancy, Hyperthyroidism, Cachexia, A... |
ORPHA:37042 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Atrophic gast... |
OMIM:240300 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Short stature, Postnatal growth retardation, Synophrys, Sparse hair, Thick eyebrow |
OMIM:611091 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Growth delay, Nail dys... |
OMIM:234050 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... |
OMIM:615816 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Growth delay, Death in childhood, Sparse hair, Intrauterine growth retardation, Cutaneous photose... |
OMIM:610756 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Arthritis, Infertility, Erectil... |
ORPHA:465508 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyeb... |
ORPHA:634 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Sézary Syndrome |
|
Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal ... |
ORPHA:3162 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Short stature, Cryptorchidism, Osteoporosis, Fine hair, ... |
OMIM:613990 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Weight loss, Elevated carcinoembryonic antigen level, Adre... |
ORPHA:100083 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma |
ORPHA:330064 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth de... |
OMIM:616005 |
Ovarian Fibrothecoma |
|
Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Increased serum testostero... |
ORPHA:314478 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair |
ORPHA:59303 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Short stature, Sparse eyebrow |
ORPHA:884 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Hirsutism, Sepsis, Recurrent bacterial infections, Nail dysplasia, Recurrent... |
OMIM:617475 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... |
ORPHA:3453 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation |
OMIM:616801 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Onychomycosis, Convex nasal rid... |
OMIM:614564 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Nail dystroph... |
ORPHA:436252 |
Rodrigues Blindness |
|
Sparse hair, Short stature, Fine hair |
OMIM:268320 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Short stature, Anteverted nares, Depressed nasal bridge, Abnormality of t... |
ORPHA:75389 |
Hurler Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Short stature, Depressed nasal bridge, Wide n... |
ORPHA:93473 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... |
OMIM:619846 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Sparse axillary hair |
OMIM:146110 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Immunodeficiency 12 |
|
Short stature, Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Growth delay, Re... |
OMIM:615468 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidi... |
OMIM:612541 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... |
ORPHA:911 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Galactose Epimerase Deficiency |
|
Growth delay, Splenomegaly, Weight loss |
ORPHA:79238 |
Alg12-Cdg |
|
Recurrent respiratory infections, Wide nose, Decreased serum insulin-like growth factor 1, Promin... |
ORPHA:79324 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia |
ORPHA:298 |
Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Short stature, Abnormal hair whorl, Growth delay, Sparse hair, Intrauterine growth retardation |
ORPHA:2872 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... |
OMIM:618108 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, ... |
OMIM:212750 |
Desbuquois Syndrome |
|
Sparse hair, Severe short stature, Disproportionate short-limb short stature, Abnormal eyelash mo... |
ORPHA:1425 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema |
ORPHA:70587 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibody level, Incre... |
ORPHA:397596 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect... |
ORPHA:79126 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Death in childhood, Intrauterine gro... |
OMIM:214110 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Intrauterine growth retardation, Short stature, Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal toenail morphology |
ORPHA:494 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Short stature, Sparse hair, Abnormality of the nail, Aplasia/Hy... |
ORPHA:313 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Short stature, Postnatal growth retardation, Splenomegaly, Reduced bone mineral dens... |
OMIM:620210 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Alopecia, Short stature, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipo... |
ORPHA:93160 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Nail dystrophy, Chronic rhinitis |
OMIM:615225 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patchy alopecia, N... |
OMIM:615387 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
Estrogen Resistance Syndrome |
|
Acne, Abnormality of the pubic hair, Increased circulating gonadotropin level, Absence of seconda... |
ORPHA:785 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:309400 |
Leishmaniasis |
|
Rhinitis |
ORPHA:507 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... |
OMIM:618986 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Fi... |
ORPHA:228390 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lympho... |
OMIM:301078 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Growth delay, Short stature, Fine hair |
ORPHA:251019 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Neoplasm of the lung, Sparse hair |
ORPHA:659 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Choanal atresia, Absent eyelashes, Bulbous nose, ... |
ORPHA:2316 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Lymp... |
ORPHA:90156 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Short stature, Keratitis, Erythroderma, Abnormality of the nail |
ORPHA:79394 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Wide nose, Skin rash, Recurrent pneumonia, Chronic mucocutane... |
OMIM:147060 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough, Severe recurr... |
ORPHA:276 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Severe short stature, B lymphocytopenia, Hypothyroidism |
OMIM:619851 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Nail dystrophy, Nail dysplasia |
ORPHA:79397 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Premature gray... |
OMIM:127550 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Short stature, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sp... |
ORPHA:1787 |
Bresek Syndrome |
|
Alopecia, Convex nasal ridge, Cryptorchidism, Growth delay, Neonatal death, Intrauterine growth r... |
ORPHA:85284 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Rabson-Mendenhall Syndrome |
|
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Hypothyro... |
ORPHA:769 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature |
ORPHA:2901 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D... |
OMIM:608612 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Alopecia, Highly arched eyebrow, Synophrys, Ectodermal dysplasi... |
ORPHA:3253 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Alopecia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Thro... |
OMIM:619281 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Erythroderma |
OMIM:618840 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Even-Plus Syndrome |
|
Sparse hair, Synophrys, Severe short stature, Highly arched eyebrow |
OMIM:616854 |
Immunodeficiency 54 |
|
Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic... |
OMIM:609981 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Retrograde ejaculation, Rhinitis, Hyperinsulinemia |
ORPHA:230 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Androgen Insensitivity Syndrome |
|
Sparse pubic hair, Absent facial hair, Sparse axillary hair |
OMIM:300068 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Rhizomelia |
ORPHA:1515 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, Recurrent upper respiratory tract infections, Short stature |
ORPHA:284180 |
Noonan Syndrome 6 |
|
Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Sparse hair |
OMIM:613224 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... |
OMIM:618186 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus, Cachexia |
ORPHA:97229 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophr... |
ORPHA:85293 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Frontal balding, Precocious puberty,... |
ORPHA:786 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Carpal osteolysis |
ORPHA:2774 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Failure to thrive, Short stature, Sparse eyelashes, Decreased circulating total IgM, Na... |
OMIM:620040 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope... |
OMIM:102700 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level |
OMIM:618901 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Alopecia, Diabetes mellitus, Short stature, Abnormal hair pattern, Intrauterine... |
ORPHA:2315 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Recurrent respiratory infections, Cutis marmorata, Erythema, Lived... |
OMIM:615934 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Short stature, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:88630 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Short stature, Fine hair, Growth delay, Delayed puberty, Sparse hair... |
OMIM:616817 |
Satoyoshi Syndrome |
|
Alopecia, Short stature, Alopecia universalis, Amenorrhea |
OMIM:600705 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Hemochromatosis, Type 1 |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating f... |
OMIM:235200 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Thick hair, Postnatal growth retardation, Abnormal subcutaneous fat tissue distrib... |
ORPHA:357074 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Short stature, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Intrauterine growth retardation, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Short stature, Fine hair, Spars... |
ORPHA:1806 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Failure to thrive in infancy, Growth delay, Decreased circulating total IgM, T lymph... |
OMIM:619510 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Bilateral cryptorchidis... |
ORPHA:1772 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... |
OMIM:600785 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... |
ORPHA:371364 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Trichoschisis, Short stature, Fine hair, Telangiectasia, Fragile ... |
OMIM:601675 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sparse eyebrow, Cryptor... |
ORPHA:495875 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Nonproductive cough, Fulminan... |
ORPHA:319213 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... |
ORPHA:169090 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Short stature |
OMIM:268020 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Trichorhinophalangeal Syndrome, Type I |
|
Recurrent respiratory infections, Slow-growing hair, Short stature, Thin nail, Concave nail, Leuk... |
OMIM:190350 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
Degcags Syndrome |
|
Prominent nose, Synophrys, Low anterior hairline, Premature graying of hair, Intrauterine growth ... |
OMIM:619488 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B lymphocyto... |
OMIM:614069 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Hypergonadotropic hypogonadism, Short stature, Decreased resp... |
OMIM:203800 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Moderate postnatal growth retardation |
OMIM:118650 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Sparse body hair |
ORPHA:2234 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Lymphadenopat... |
ORPHA:2221 |
Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi... |
ORPHA:813 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di... |
ORPHA:563609 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Proportionate short stature, Synophrys, Low anterior hairline, Fine hair, ... |
ORPHA:391408 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Pleural effusion, Cyanosis |
ORPHA:2414 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Cleft ala nasi |
OMIM:164180 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Asthma, Skin rash, Allergic rhinitis |
OMIM:612714 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Scheie Syndrome |
|
Rhinitis |
ORPHA:93474 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczema |
OMIM:300299 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Pneumothorax, Hypoxemia, Abnormal pulmonary artery mo... |
ORPHA:2257 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Retinal telangiectasia, Postnatal growth retardation, Fine hair, Premature graying... |
OMIM:612199 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... |
OMIM:620133 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:42 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Nail dystrophy, Na... |
OMIM:226600 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Nail dystrophy, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a... |
OMIM:610910 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc... |
OMIM:615190 |
Fanconi Anemia, Complementation Group S |
|
Sparse hair, Long eyelashes, Low anterior hairline, Short stature |
OMIM:617883 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Scarring, Leukocytosis,... |
OMIM:308300 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy |
ORPHA:100976 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... |
OMIM:241410 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Cellulitis |
ORPHA:3165 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Short stature, Splenomegaly, Loss of eyel... |
OMIM:263700 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Gonadoblastoma |
|
Hirsutism, Increased serum testosterone level |
ORPHA:206484 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Anhidro... |
OMIM:129400 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Short stature, Allergic rhinitis, Diabetes mellitus, Recurrent v... |
OMIM:176690 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Low anterior hairline, Wrist flexion contract... |
ORPHA:800 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Recurrent pneumonia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hai... |
OMIM:158310 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Iridocyclitis, Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes mellitus, Ty... |
ORPHA:412057 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis |
OMIM:613496 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Sparse scalp hair, Alopecia, Loss of subcutaneous adipose tissue in limbs, Lipodystro... |
OMIM:248370 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... |
ORPHA:1005 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia |
ORPHA:1438 |
46,Xx Gonadal Dysgenesis |
|
Short stature, Sparse pubic hair, Pulmonary fibrosis, Abnormality of secondary sexual hair, Delay... |
ORPHA:243 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Eec Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Slow-growing hair, Abnormal... |
ORPHA:1896 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Short stature, Sparse lateral eyebrow |
OMIM:190351 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... |
ORPHA:2905 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Short stature, Fragile nails |
OMIM:242150 |
Whipple Disease |
|
Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypothyroidism, Anemia |
ORPHA:3452 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Inguinal her... |
OMIM:613177 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Fail... |
OMIM:614700 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Growth delay |
OMIM:619980 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Absence of subcutaneous fat, Osteolysis, Growth delay, Generalized osteoporosis |
OMIM:176670 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Hyp... |
ORPHA:2298 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Growth delay, Acrocyanosis, Long eyebrows |
OMIM:614407 |
Xfe Progeroid Syndrome |
|
Severe short stature, Cachexia, Absence of subcutaneous fat, Corneal scarring, Death in adolescen... |
OMIM:610965 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Short stature, Progeroid facial appearance |
OMIM:617763 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM,... |
ORPHA:90362 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure |
ORPHA:352447 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Alopecia totalis, ... |
OMIM:618775 |
Follicular Lymphoma |
|
Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pleural effusion, Cyanosis |
ORPHA:60041 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Kury-Isidor Syndrome |
|
Alopecia, Anteverted nares, Growth delay, Recurrent otitis media, Hypertrichosis |
OMIM:619762 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... |
ORPHA:227990 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Osteomyelitis, Chronic rhinitis due to narrow nasal airway |
OMIM:259710 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, A... |
ORPHA:647 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... |
ORPHA:227982 |
Camurati-Engelmann Disease |
|
Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Craniofacial osteosclerosi... |
ORPHA:1328 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... |
OMIM:618187 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short stature, Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ... |
ORPHA:189427 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai... |
ORPHA:2269 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Breathing dysregulation |
OMIM:618232 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, ... |
ORPHA:808 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Lo... |
ORPHA:861 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Short stature, Dysmenorrhea, Anteverted nares, Sparse eyebrow, Early ... |
ORPHA:2067 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Cranioectodermal Dysplasia 3 |
|
Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Ectodermal dysplasia, Sparse hair, ... |
OMIM:614099 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... |
OMIM:616084 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline |
OMIM:619320 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Intrauterine growth retardation, Hypoplasia of the thymus |
OMIM:617022 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Thalidomide Embryopathy |
|
Short stature, Chronic rhinitis |
ORPHA:3312 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... |
ORPHA:90794 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Patchy alopecia, Decreased testicular size |
ORPHA:85279 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Cryptorchidism, Thromb... |
OMIM:620005 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabeculae, Alopecia universa... |
OMIM:277440 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Short stature, Sparse eyelashes, Sparse eyebrow, Postnatal g... |
OMIM:613026 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Sparse eyelashes, Alopecia totalis, Anteverted nares, ... |
OMIM:613451 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Joubert Syndrome 37 |
|
Sparse hair, Short stature |
OMIM:619185 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Dyspnea, Meningitis, Uveitis, Restrictive ventilatory defect, Pleural ef... |
ORPHA:36412 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Short stature, Sparse hair |
OMIM:616200 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Underdeveloped nasal alae, Absent eyelashes, Cryptorchid... |
ORPHA:166035 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Fine hair, Pulmonary hypoplasia, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia o... |
OMIM:614091 |
Satoyoshi Syndrome |
|
Short stature, Abnormal hair morphology, Nephrogenic diabetes insipidus, Sparse or absent eyelash... |
ORPHA:3130 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Hereditary Methemoglobinemia |
|
Cyanosis, Abnormality of the nail |
ORPHA:621 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Weight lo... |
ORPHA:3226 |
Lichen Planopilaris |
|
Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis |
ORPHA:525 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... |
OMIM:615966 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne, Increased circulating dehydroepiandrosterone-sulfate concentration, Primary amenorrhea, Inc... |
OMIM:158330 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Frontal hirsutism, Cyanosis |
ORPHA:3304 |
Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Failure to th... |
ORPHA:974 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Premature skin wrinkling, Sparse hai... |
ORPHA:363618 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Short stature, Anteverted nares, Depressed nasal brid... |
ORPHA:97360 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Premature Ovarian Failure 8 |
|
Streak ovary, Decreased serum estradiol, Elevated circulating follicle stimulating hormone level,... |
OMIM:615723 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyelashes, Lipoatrophy, Decreased serum leptin... |
OMIM:614008 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Alopecia, Short s... |
ORPHA:1775 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Alopecia, Diabetes mellitus, Hypergonadotropi... |
ORPHA:273 |
Eosinophilic Gastroenteritis |
|
Asthma, Atopic dermatitis, Allergic rhinitis |
ORPHA:2070 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Short stature, Thick eyebrow |
ORPHA:127 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... |
OMIM:601495 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Recurrent o... |
OMIM:613179 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct proliferation, Sp... |
OMIM:607626 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Severe short stature, Abnormal dental enamel morphology, Lipodystrophy... |
ORPHA:3163 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Scarring, Craniosynostosis, Onychogryposis, Decreased circulating antibody level, Growt... |
ORPHA:79396 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Short stature, Hyperconvex nail |
OMIM:619721 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep... |
OMIM:137940 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Mediastinal lymphadenopathy, Splenomegaly, Osteolysis, Lymphadenopath... |
ORPHA:809 |
Testicular Agenesis |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration |
ORPHA:325124 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... |
ORPHA:1010 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... |
OMIM:261990 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Eczema, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Co... |
ORPHA:96181 |
Agel Amyloidosis |
|
Respiratory tract infection, Nail dystrophy, Sparse hair, Bruising susceptibility, Dermatological... |
ORPHA:85448 |
Monosomy 18P |
|
Alopecia, Short stature, Wide nasal bridge, Low posterior hairline, Hypothyroidism |
ORPHA:1598 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Nail dystrophy, Abnormality of ... |
ORPHA:678 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger... |
OMIM:268130 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Prominent nasal bridge, Breast hypoplasia, Nail pits,... |
ORPHA:978 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Short stature, Decreased response to growth hormone stimulation test, Craniosynostosis |
OMIM:601853 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Pneumothorax, Cyanosis |
ORPHA:1302 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Apnea, Abnormality of hair texture, Growth delay, Chronic rhini... |
ORPHA:667 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Anteverted nares, Depressed nasal bridge,... |
ORPHA:221139 |
Mogs-Cdg |
|
Alopecia, Fair hair, Hirsutism, Hepatosplenomegaly, Decreased circulating antibody level, Decreas... |
ORPHA:79330 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... |
ORPHA:514 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Short stature, Adrenal hypopl... |
OMIM:617053 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Asthma, Increased circulating gonadotropin level, Oligozoosperm... |
ORPHA:8 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Nail dysplasia, Recurrent infections |
OMIM:612783 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Short stature, Sparse eyelashes... |
ORPHA:2909 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyt... |
ORPHA:93552 |
46,Xx Sex Reversal 2 |
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Decreased serum testosterone concentration |
OMIM:278850 |
Macs Syndrome |
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Alopecia, Short stature, Sparse eyebrow, Bronchiectasis, Sparse hair, Bruising susceptibility |
OMIM:613075 |
Thymic Neuroendocrine Tumor |
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Osteopenia, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet ... |
ORPHA:97289 |
Lysosomal Acid Lipase Deficiency |
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Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, P... |
ORPHA:275761 |
Alg1-Cdg |
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Respiratory failure |
ORPHA:79327 |
Pfapa Syndrome |
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Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Adams-Oliver Syndrome 2 |
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Alopecia, Depressed nasal bridge, Bulbous nose, Low anterior hairline, Small nail |
OMIM:614219 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
Acrodermatitis Enteropathica |
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Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Pustule, Paronychia, Cheilitis... |
ORPHA:37 |
Chronic Beryllium Disease |
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Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Onychotrichodysplasia And Neutropenia |
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Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Odontoonychodermal Dysplasia |
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Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Fine h... |
OMIM:257980 |
Amyotrophic Lateral Sclerosis |
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Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Sparse hair, Intrauterine growth retardation, Prominent superficial blood vessels, Short stature |
OMIM:219150 |
Nephronophthisis 2 |
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Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Neutral Lipid Storage Disease With Ichthyosis |
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Alopecia, Short stature, Obesity, Abnormal granulocyte morphology, Abnormal circulating creatine ... |
ORPHA:98907 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Rhizomelia, Short stature, Abnormal lung lobation, Growth delay, Severe intrauterine growth retar... |
OMIM:614114 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Recurrent ear infections, Hypoplas... |
ORPHA:544488 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections |
ORPHA:86788 |
Muscular Dystrophy, Duchenne Type |
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Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Bone Dysplasia, Lethal Holmgren Type |
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Rhizomelia, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive, Anemia |
ORPHA:1842 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Respiratory failure |
ORPHA:1861 |
De Barsy Syndrome |
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Recurrent sinopulmonary infections, Short stature, Progeroid facial appearance, Postnatal growth ... |
ORPHA:2962 |
Tarp Syndrome |
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Cyanosis, Abnormal hair pattern, Pulmonary hypoplasia, Intrauterine growth retardation, Thick eye... |
ORPHA:2886 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis |
OMIM:612840 |
Pulmonary Capillary Hemangiomatosis |
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Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Hypo... |
ORPHA:199241 |
Jaberi-Elahi Syndrome |
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Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatitis, Sepsis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Recurrent bacterial infe... |
OMIM:308230 |
Insulin Autoimmune Syndrome |
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Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circulating antibod... |
ORPHA:411593 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Alopecia, Short stature, Abnormal hair morphology, Osteolysis, Generalized lipodystrophy, Osteoly... |
ORPHA:90154 |
Peripartum Cardiomyopathy |
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Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Juvenile Polyposis Of Infancy |
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Refractory anemia, Short stature, Cachexia, Anemia, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Eczema, Asthma |
OMIM:618162 |
Rhabdoid Tumor |
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Thrombocytopenia, Weight loss, Anemia, Lymphadenopathy |
ORPHA:69077 |
Pachyonychia Congenita |
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Respiratory distress, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Finger... |
ORPHA:2309 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
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Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Respiratory failure |
ORPHA:363400 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio... |
ORPHA:411696 |
Niemann-Pick Disease, Type C2 |
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Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Incontinentia Pigmenti |
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Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Abnormal fingernail morphology, Abno... |
ORPHA:464 |
Wiedemann-Rautenstrauch Syndrome |
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Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Short stature, ... |
OMIM:264090 |
Abcd Syndrome |
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White eyelashes, White eyebrow, Albinism, Large for gestational age, Neonatal death, Polycythemia |
OMIM:600501 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Ectodermal dysplasia,... |
OMIM:106260 |
Mercury Poisoning |
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Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Bronchopulmonary Dysplasia |
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Atelectasis, Abnormal lung morphology, Hyperoxemia, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Sparse hair |
OMIM:614105 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... |
OMIM:269200 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Severe cytomegalovirus infection, Recurrent bacterial infections, Aplasia of the eccrine sweat gl... |
OMIM:300291 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
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Death in early adulthood, Alopecia, Sparse eyelashes, Sparse eyebrow, Death in adolescence, Nail ... |
OMIM:605676 |
Osteogenesis Imperfecta, Type Xx |
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Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt... |
OMIM:618644 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Recurrent respiratory infections, Sparse scalp hair, Anhidrotic ectodermal dysplasia, Aplasia of ... |
OMIM:612132 |
Meier-Gorlin Syndrome 4 |
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Short stature, Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema,... |
OMIM:613804 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Short stature, Alopecia totalis... |
ORPHA:221008 |
Tetrasomy 5P |
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Postnatal growth retardation, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia |
ORPHA:3309 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Hypoxemia, Honeycomb l... |
ORPHA:79127 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Cartilage-Hair Hypoplasia |
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Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne... |
OMIM:250250 |
Lethal Congenital Contracture Syndrome 2 |
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Respiratory failure |
OMIM:607598 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
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Respiratory distress, Respiratory failure |
OMIM:620166 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
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Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Sarcoidosis, Susceptibility To, 2 |
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Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Pleural effu... |
OMIM:612387 |
Trisomy 18 |
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Omphalocele, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, C... |
ORPHA:3380 |
46,Xy Sex Reversal 6 |
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Hirsutism, Sparse axillary hair |
OMIM:613762 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Short stature, Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline |
OMIM:250410 |
Polyendocrine-Polyneuropathy Syndrome |
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Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret... |
OMIM:616113 |
Lipoid Proteinosis Of Urbach And Wiethe |
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Patchy alopecia, Scarring |
OMIM:247100 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Snakebite Envenomation |
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Respiratory failure, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
Kenny-Caffey Syndrome, Type 1 |
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Proportionate short stature, Birth length less than 3rd percentile, Recurrent bacterial infection... |
OMIM:244460 |
Immunodeficiency 17 |
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Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chro... |
OMIM:615607 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
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Truncal obesity, Alopecia, Supernumerary nipple |
ORPHA:3224 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Sparse hair, Recurrent respiratory infections, Growth delay |
OMIM:615508 |
Biotinidase Deficiency |
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Respiratory distress, Alopecia, Apnea, Skin rash, Recurrent viral infections, Recurrent candida i... |
ORPHA:79241 |
Chromosome 5P13 Duplication Syndrome |
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Sparse hair, Low posterior hairline |
OMIM:613174 |
Spinocerebellar Ataxia Type 1 |
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Respiratory failure |
ORPHA:98755 |
Congenital Myopathy 10B, Mild Variant |
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Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Recurrent bacterial infections |
OMIM:202700 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail |
OMIM:242100 |
Fibrodysplasia Ossificans Progressiva |
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Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Kikuchi-Fujimoto Disease |
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Alopecia, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Thr... |
ORPHA:50918 |
X-Linked Dominant Chondrodysplasia Punctata |
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Abnormally ossified vertebrae, Short stature, Sparse eyelashes, Abnormal hair pattern, Sparse eye... |
ORPHA:35173 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Oste... |
ORPHA:90153 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... |
ORPHA:562 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation |
ORPHA:747 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Alopecia, Hypogonadism, Impotence |
OMIM:300100 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Sparse eyebrow, Postnatal growth retardation, Patchy alopecia, Spar... |
OMIM:302960 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Dry hair, Severe short stature, Diabetes mellitus, Cachexia,... |
ORPHA:191 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Craniosynostosis, Testicul... |
ORPHA:744 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... |
OMIM:620366 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis, Osteolysis, W... |
ORPHA:324964 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Fine hair, Excessive wrinkled skin, Sparse hair, Intrauterine growth... |
OMIM:614438 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Cln3 Disease |
|
Acne, Hirsutism, Increased circulating androgen concentration |
ORPHA:228346 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Choanal atresia, Proportionate short stature, Abnormality of hair tex... |
ORPHA:2108 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Jaundice |
ORPHA:60 |
Nicolaides-Baraitser Syndrome |
|
Recurrent respiratory infections, Dry hair, Absent eyebrow, Sparse scalp hair, Short stature, Low... |
OMIM:601358 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Short stature, Sparse body hair |
ORPHA:3068 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:2004 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature |
ORPHA:3004 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Postnatal growth retardation, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:212066 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Low anterior hairline |
OMIM:617666 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Short stature, Sparse eyelashes, Small for gestation... |
OMIM:268400 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Biliary hyperplasia, Cryptorchidism... |
ORPHA:83617 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... |
ORPHA:168558 |
Noonan Syndrome 14 |
|
Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Sparse hair, Bruising suscepti... |
OMIM:619745 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality ... |
ORPHA:391487 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Wide nasal bridge |
OMIM:616367 |
Rett Syndrome |
|
Short stature, Cachexia |
OMIM:312750 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Telangiectasia of the skin, Erythema, A... |
ORPHA:221 |
Pseudomyxoma Peritonei |
|
Weight loss, Hernia, Lymphadenopathy |
ORPHA:26790 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi... |
ORPHA:79474 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy |
OMIM:618373 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Short stature, Alopecia, Sparse ey... |
OMIM:305000 |
Immunodeficiency 31C |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... |
OMIM:614162 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Short stature, Abnormal dental enamel morph... |
ORPHA:567 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Short stature, Alopecia totalis... |
ORPHA:221016 |
Hermansky-Pudlak Syndrome 2 |
|
Albinism, Recurrent pneumonia, Wide nasal bridge, Recurrent bacterial infections, Periodontitis, ... |
OMIM:608233 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, Pannic... |
ORPHA:508542 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Cachexia |
ORPHA:2058 |
Mannosidosis, Alpha B, Lysosomal |
|
Depressed nasal ridge, Low anterior hairline, Growth delay, Recurrent bacterial infections, Thick... |
OMIM:248500 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Bartsocas-Papas Syndrome |
|
Alopecia totalis, Underdeveloped nasal alae, Hypoplastic toenails, Sparse or absent eyelashes, Sh... |
ORPHA:1234 |
Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, El... |
ORPHA:160 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thy... |
ORPHA:109 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Leigh Syndrome |
|
Alopecia, Multiple joint contractures, Growth delay, Neutropenia, Intrauterine growth retardation... |
ORPHA:506 |
Cystic Echinococcosis |
|
Eosinophilia, Abnormality of the testis size, Abscess, Bone cyst, Weight loss, Ovarian cyst, Incr... |
ORPHA:400 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
ORPHA:50814 |
Congenital Fibrinogen Deficiency |
|
Abnormality of the subungual region, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Short stature, Precocious puberty, Growth delay, Hypophosphatemic rickets |
OMIM:163200 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Grow... |
ORPHA:2072 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Growth delay... |
OMIM:615485 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Short stature, Fine hair, Delayed puberty, Sparse hair, Intrauterine growth retarda... |
OMIM:618891 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Ovarian Hyperstimulation Syndrome |
|
Increased circulating gonadotropin level, Pleural effusion, Hirsutism, Increased serum testostero... |
ORPHA:64739 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Scarf Syndrome |
|
Sparse hair, Hypoplastic nipples, Low posterior hairline |
ORPHA:3134 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased ... |
ORPHA:90790 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures... |
ORPHA:96123 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty |
ORPHA:2326 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Weight... |
ORPHA:354 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Highly arched eyebrow, Postnatal growth retardation, Fine hair, Low posterior hair... |
OMIM:613563 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... |
ORPHA:520 |
Vici Syndrome |
|
Recurrent respiratory infections, Wide nose, Hypopigmentation of hair, Depressed nasal bridge, Al... |
OMIM:242840 |
Pleural Mesothelioma |
|
Weight loss, Lymphadenopathy |
ORPHA:50251 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Short stature, Fine hair |
OMIM:257850 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... |
ORPHA:2273 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Failure to thrive, Primary testicular failure, Decreased c... |
ORPHA:85138 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Recurrent pneumonia, Nail dystrophy, Sparse hair, Fragile skin, Alopecia universalis |
ORPHA:158668 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Recurrent pneumonia |
OMIM:616449 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Fragile skin, Onycholysis, Nail dystrophy, ... |
OMIM:601214 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Short stature, Femoral hernia, Decreased circulating parat... |
OMIM:188400 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive |
OMIM:610768 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Short stature, Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Mild intr... |
OMIM:308050 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia |
OMIM:253270 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Growth delay, Recurrent bacterial infections, Inflammation of the large in... |
OMIM:615895 |
Wilson Disease |
|
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:905 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Proportionate short statur... |
OMIM:234100 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Anomalous pulmonary venous return |
ORPHA:860 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Failure to thrive, Decreased circulatin... |
ORPHA:199299 |
Marshall Syndrome |
|
Sparse hair, Short stature, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature |
OMIM:210050 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Short stature |
ORPHA:3426 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Short stature, Abnormal eyelash morphology, Low posterior hairli... |
ORPHA:1340 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia |
ORPHA:1647 |
Lysinuric Protein Intolerance |
|
Short stature, Intraalveolar phospholipid accumulation, Fine hair, Sparse hair, Pulmonary hemorrhage |
OMIM:222700 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Respiratory failure, Absent fingernail, Congeni... |
ORPHA:158687 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Biotinidase Deficiency |
|
Alopecia, Skin rash, Apnea, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunct... |
OMIM:253260 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
Giant Cell Arteritis |
|
Alopecia, Pericarditis, Epistaxis, Recurrent pharyngitis, Meningitis, Arthritis, Cough, Diabetes ... |
ORPHA:397 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis |
OMIM:250800 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage |
ORPHA:2038 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Short stature, Highly arched eyebrow, Low posterior hairline, Coar... |
OMIM:617506 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypopigmentation of hair, Recurrent respiratory infections, ... |
ORPHA:167 |
Gapo Syndrome |
|
Prominent scalp veins, Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipp... |
OMIM:230740 |
Relapsing Polychondritis |
|
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Dyspnea, Myocarditis, Hepat... |
ORPHA:728 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration |
ORPHA:79320 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Abnormal fingernail morphology, Abnormal hair morphology, Hypoplastic toe... |
ORPHA:289 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Choanal Atresia |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Short stature, Jaundice, Fine hair, Sparse hair, Woolly hair, Trichorrh... |
OMIM:222470 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Scarf Syndrome |
|
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline |
OMIM:312830 |
Glass Syndrome |
|
Sparse hair, Nail dysplasia, Long eyelashes, Short stature |
OMIM:612313 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:301074 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Ectodermal dysplasi... |
OMIM:103285 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Prominent nose, Increased circulating androgen concentration, Premature adrena... |
ORPHA:2976 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Growth delay, Small nail, Nail dysplasia, Sparse hair, Breast hypoplasia |
OMIM:614813 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Slender build, Cachexia, Weight loss |
OMIM:603041 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Short stature |
OMIM:615349 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ... |
OMIM:619321 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Cryptorchidism, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma |
OMIM:613001 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Teebi-Shaltout Syndrome |
|
Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Sparse hair |
OMIM:272950 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Intrauterine growth retardation, Short stature, Disproportionate short-limb short st... |
OMIM:616541 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Short stature, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia, Spa... |
OMIM:601559 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypopigmentation of hair, Spontaneous, recurrent epistaxis, ... |
OMIM:214500 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Lymph node hypoplasia, De... |
OMIM:300755 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thr... |
ORPHA:71493 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Intrauterine gr... |
OMIM:619487 |
Kid Syndrome |
|
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Postna... |
ORPHA:477 |
Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... |
ORPHA:95430 |
Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... |
OMIM:608156 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Inguinal hernia, Short stature, Craniosynostosis, Postnatal growth ret... |
ORPHA:576 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Bone Marrow Failure Syndrome 3 |
|
Short stature, Nail dystrophy, Small nail, Sparse hair, Intrauterine growth retardation, Aplasia/... |
OMIM:617052 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Postnatal growth retardation, Synophrys, Sparse hair, Intrauterine growth retardation, Toenail dy... |
OMIM:300966 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Thyroiditis, Weight loss, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Down Syndrome |
|
Sparse hair, Prematurely aged appearance |
ORPHA:870 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Nasal polyposis, R... |
ORPHA:586 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Postnatal growth retardation, Fine hair |
ORPHA:251028 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Recurrent urinary tract infections, Recurrent skin infections, Pn... |
ORPHA:79404 |
Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ... |
ORPHA:29073 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Excessive skin w... |
ORPHA:2834 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Cyanosis |
ORPHA:98914 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Meckel Syndrome 14 |
|
Pneumothorax, Pulmonary hypoplasia, Cyanosis |
OMIM:619879 |
Hamamy Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... |
OMIM:611174 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Hyperthyroidism, Parotitis, Eosinophilia, Scarring, Diabetes insipidu... |
ORPHA:797 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Growth delay, Recurrent bacterial infections, Abnormality of the adrenal gl... |
ORPHA:2176 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Pancreatic cysts, Bone cyst, Weight loss, Abnormal spleen morphology... |
ORPHA:284 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Severe short stature, Prematurely aged appearance,... |
OMIM:133540 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Epistaxis, Irregular menstruation, Enterocolitis, Gout, Ulcerative colitis, Growth... |
ORPHA:79259 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth delay, Excessive wrink... |
ORPHA:920 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Urticaria, Acro... |
ORPHA:183 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Pheochromocytoma, Elevated circulating... |
ORPHA:1332 |
Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut... |
ORPHA:3208 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair, Short stature |
OMIM:607812 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Absent eyelashes, Low posterior hai... |
OMIM:115150 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Short stature, Eczema, Pneumonia, Skin rash, Osteomyelitis, Decreased response to grow... |
ORPHA:811 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Short stature, Loose anagen hair, Long eyelashes, Sparse hair |
OMIM:607721 |
White-Sutton Syndrome |
|
Sparse hair, Intrauterine growth retardation, Short stature |
OMIM:616364 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Sparse axillary hair, Adrenal hypoplasia... |
ORPHA:95409 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia |
ORPHA:496641 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Fine hair, Sparse ... |
ORPHA:444072 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasal alae, Hypothyroid... |
ORPHA:363958 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Sparse eyebrow, Recurrent pneumonia, Growth delay, Severe postnatal growth retardat... |
OMIM:252500 |
Colchicine Poisoning |
|
Alopecia, Leukocytosis |
ORPHA:31824 |
Focal Dermal Hypoplasia |
|
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... |
ORPHA:2092 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Diabetes mellitus, ... |
ORPHA:536532 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:129900 |
Goldberg-Shprintzen Syndrome |
|
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow |
OMIM:609460 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Spo... |
OMIM:606721 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... |
ORPHA:420741 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Cryptorchidism, Flexion contracture, Patchy alopecia, Decreased body weight, Chole... |
OMIM:300534 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Slow-growing hair, Short nail, Rhizomelia, Thin nail, Fine hair... |
OMIM:218330 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha... |
ORPHA:2710 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Short stature, Death in childhood |
OMIM:300661 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca |
ORPHA:182 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Short stature, Eczema, Rec... |
OMIM:308205 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Aicardi-Goutieres Syndrome 1 |
|
Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Marshall-Smith Syndrome |
|
Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Recurrent upper respiratory tract ... |
OMIM:602535 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Short stature, Cachexia |
ORPHA:1969 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Primary testicular failure, Abnormal lymp... |
ORPHA:85450 |
Scalp-Ear-Nipple Syndrome |
|
Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasi... |
OMIM:181270 |
Glycogen Storage Disease Ib |
|
Short stature, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Delayed... |
OMIM:232220 |
Opitz-Kaveggia Syndrome |
|
Short stature, Facial wrinkling, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:305450 |
Distal Deletion 19P |
|
Alopecia, Vaginal hernia, Decreased circulating antibody level, Keloids, Umbilical hernia, Thick ... |
ORPHA:96129 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Growth delay, Pu... |
ORPHA:980 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura |
ORPHA:343 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Flexion contracture, Lymphadenopathy, Hepatosplenomegaly, Enth... |
ORPHA:85408 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Growth delay, Short stature, Thin nail |
OMIM:617799 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Weight loss, Goiter |
OMIM:188580 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis |
OMIM:617478 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo... |
ORPHA:2396 |
Familial Dysautonomia |
|
Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology |
ORPHA:1764 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss |
ORPHA:188 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Inguinal hernia, Alopecia totalis, Bila... |
OMIM:263650 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Brucellosis |
|
Liver abscess, Lung abscess, Miscarriage, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1304 |
Juvenile Dermatomyositis |
|
Alopecia, Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis, ... |
ORPHA:93672 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, Hypoalbu... |
ORPHA:75565 |
Polycythemia Vera |
|
Myelofibrosis, Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Bronchitis, Growth delay, Pulmonary hypoplasia |
ORPHA:1199 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:881 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Alopecia, Anteverted nares, Depressed nasal bridge, Cryptorchid... |
ORPHA:1507 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Persistent EBV... |
OMIM:619573 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Absent nipple, Short stature, Sparse eyebrow, Hypoplastic nippl... |
OMIM:620186 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Menkes Disease |
|
Hypopigmentation of hair, Spontaneous hematomas, Prolonged neonatal jaundice, Sparse hair, Woolly... |
ORPHA:565 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Intrauterine growth retardation |
OMIM:619934 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Short stature, Progeroid facial appearance, Sparse eyebrow, Postnatal growth retardation, Nail dy... |
OMIM:619127 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:244450 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Marfan Syndrome |
|
Osteopenia, Inguinal hernia, Cachexia, Osteoporosis, Slender build |
ORPHA:558 |
Pitt-Hopkins Syndrome |
|
Growth delay, Postnatal growth retardation, Acrocyanosis, Supernumerary nipple |
ORPHA:2896 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Short stature, Proger... |
OMIM:216400 |
Systemic Sclerosis |
|
Alopecia, Osteomyelitis, Pericarditis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski... |
ORPHA:90291 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Recurrent lower respiratory tract infections, Cyanosis, Death in childhood |
OMIM:618426 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood |
OMIM:618278 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Prominent superficial veins, Prematurely aged appearance |
OMIM:601812 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Ethylene Glycol Poisoning |
|
Cyanosis, Pulmonary edema |
ORPHA:31826 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive, Anemia, Reduced bone mineral density |
OMIM:619377 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... |
ORPHA:2020 |
Xeroderma Pigmentosum |
|
Alopecia, Short stature, Flat nasal alae, Keratitis, Cryptorchidism, Hypogonadism, Blepharitis, D... |
ORPHA:910 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Dysgammaglobulinemia, T lymphocytopenia, B lymphocyto... |
OMIM:251260 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
Sickle Cell Disease |
|
Hypoxemia, Recurrent bacterial infections, Priapism |
OMIM:603903 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Severe short stature, Short stature, Anteverted nares, Curly eyelashes, Depressed nasal... |
ORPHA:3107 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia |
ORPHA:309031 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Abnormal pattern of respiration, Abnormality of... |
ORPHA:428 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Delayed menarche... |
ORPHA:740 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Severe short stature, Prominent nose, Long nose, Cryptorchidism, Dyspnea, Loss of eyela... |
ORPHA:2636 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... |
ORPHA:97283 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... |
OMIM:201810 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Breast aplasia |
ORPHA:2036 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... |
ORPHA:97282 |
Nephroblastoma |
|
Weight loss, Lymphadenopathy |
ORPHA:654 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Polyclonal e... |
ORPHA:171 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Growth delay |
OMIM:223900 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Long eyelashes, Neutrop... |
ORPHA:79430 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hyperthyroidism, S... |
ORPHA:3455 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Abnormal dental enamel morphology, Pancreatic cysts, Reduced bone mineral... |
ORPHA:2750 |
Leprosy |
|
Absent eyebrow, Alopecia, Abnormality of the spleen, Testicular mass, Loss of eyelashes, Abnormal... |
ORPHA:548 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Short stature, Pancreatic cysts, Ovarian cyst, Sparse hair, Enamel hypoplasia |
OMIM:311200 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Short stature, Rhizomelia, Sparse eyebrow, Recurrent pneumonia, Ectodermal dysp... |
OMIM:613610 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Stickler Syndrome |
|
Short stature, Abnormal dental enamel morphology, Cachexia, Reduced bone mineral density, Slender... |
ORPHA:828 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Caroli Disease |
|
Liver abscess, Splenomegaly, Leukocytosis, Weight loss, Cholelithiasis, Abnormal circulating alph... |
ORPHA:53035 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Cutis marmorata, Short stature, Sparse hair, Intrauterine growth retardation |
OMIM:151050 |
Osteosarcoma |
|
Osteolysis, Weight loss |
ORPHA:668 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... |
ORPHA:85443 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Short stature, Thin nail, Concave nail, Pneumothorax, Sparse hair, Fr... |
OMIM:218040 |
Congenital Tracheal Stenosis |
|
Cyanosis, Abnormal lung morphology, Abnormal lung lobation, Pulmonary artery atresia, Anomalous o... |
ORPHA:141127 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Abnormality of the nail |
ORPHA:349 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Recurrent bacterial infections, Pulm... |
ORPHA:99104 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss |
ORPHA:103910 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Pulmonary artery stenosis, Fine hair, Hypoplastic nipples, Sparse hair, Pe... |
OMIM:280000 |
Joubert Syndrome 21 |
|
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea |
OMIM:615636 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia |
ORPHA:52417 |
Q Fever |
|
Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Weight loss, Granuloma, Increased circ... |
ORPHA:781 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Complete Atrioventricular Septal Defect |
|
Recurrent pneumonia, Cyanosis |
ORPHA:1329 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Growth dela... |
ORPHA:251071 |
Neurocardiofaciodigital Syndrome |
|
Sparse hair, Short stature, Sparse eyebrow |
OMIM:619869 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis |
ORPHA:99106 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasi... |
ORPHA:99921 |
Linear Nevus Sebaceus Syndrome |
|
Growth delay, Alopecia, Adenoma sebaceum |
ORPHA:2612 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pleural effusion, Cyanosis, Pulmonary edema |
OMIM:261740 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... |
ORPHA:144 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Weight loss |
ORPHA:134 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Flexion contracture, Patchy alopecia, Progressive los... |
ORPHA:90289 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... |
ORPHA:91139 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... |
ORPHA:97280 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Weight loss, O... |
ORPHA:1333 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight loss, Iron defici... |
ORPHA:100075 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Disproportionate short sta... |
OMIM:210710 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Increased circulating ferritin conce... |
OMIM:615846 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Weight loss, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
Roberts Syndrome |
|
Sparse hair, Postnatal growth retardation, Severe intrauterine growth retardation |
ORPHA:3103 |
Cartilage-Hair Hypoplasia |
|
Sparse hair, Rhizomelia, Disproportionate short-limb short stature, Sparse eyebrow |
ORPHA:175 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Budd-Chiari Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:131 |
Chime Syndrome |
|
Sparse hair, Erythema, Fine hair |
ORPHA:3474 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... |
OMIM:187300 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weig... |
ORPHA:100085 |
Grfoma |
|
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... |
ORPHA:97261 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Pulmonary edema |
ORPHA:137675 |
Listeriosis |
|
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Short stature, Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Acro... |
OMIM:303600 |
Restrictive Dermopathy |
|
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Sparse or absent eye... |
ORPHA:1662 |
Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Increas... |
ORPHA:97287 |
Myhre Syndrome |
|
Short stature, Fine hair, Birth length less than 3rd percentile, Sparse hair, Intrauterine growth... |
OMIM:139210 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic toenails, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
African Trypanosomiasis |
|
Alopecia, Pericarditis, Abnormality of the menstrual cycle, Keratitis, Myocarditis, Abnormality o... |
ORPHA:3385 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Sparse scalp hair, Mild postnatal growth retardation, Recurrent... |
OMIM:150230 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atypical pulmonary... |
ORPHA:100080 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Growth delay, Weight loss, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Diabetes mellitus, Short stature, Failure to thrive in infancy, Splenom... |
OMIM:219800 |
Ppoma |
|
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... |
ORPHA:97278 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Hypogonadotropic hypogonadism, Osteolysis, Weight loss, Diabetes ... |
ORPHA:35687 |
Polyarteritis Nodosa |
|
Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Diabetes mellitus, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
Lymphoid Interstitial Pneumonia |
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Mediastinal lymphadenopathy, Failure to thrive, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
Perry Syndrome |
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Weight loss |
ORPHA:178509 |
Familial Gestational Hyperthyroidism |
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Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:143 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Death in infancy, Respiratory failure |
OMIM:300868 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Wrinkly Skin Syndrome |
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Short stature, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet,... |
OMIM:278250 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Sparse scalp hair, Short stature, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior ... |
OMIM:619841 |
Renpenning Syndrome 1 |
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Brittle hair, Short stature, Death in childhood, Sparse hair, Sparse lateral eyebrow |
OMIM:309500 |
Neuroendocrine Tumor Of The Rectum |
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Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atypical pulmonary... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
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Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atypical pulmonary... |
ORPHA:100082 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... |
OMIM:600376 |
Ablepharon-Macrostomia Syndrome |
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Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature skin wrinkling, Hyp... |
OMIM:200110 |
Solitary Fibrous Tumor |
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Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Bone cyst, ... |
OMIM:181000 |
Unilateral Polymicrogyria |
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Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Double Outlet Left Ventricle |
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Pulmonary artery stenosis, Cyanosis |
ORPHA:3427 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Cyanosis, Short stature, Recurrent upper respiratory tract infections, Delayed puberty, Recurrent... |
ORPHA:293987 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal glands, Thyr... |
ORPHA:79078 |
Goodpasture Syndrome |
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Cyanosis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu... |
OMIM:233450 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Short stature, Cryptorchidism, Reduced bone mineral d... |
ORPHA:84 |
Ring Chromosome 13 Syndrome |
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Alopecia, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Growth delay, Primary hypo... |
ORPHA:96176 |
Bullous Pemphigoid |
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Diabetes mellitus, Weight loss |
ORPHA:703 |
Abetalipoproteinemia |
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Respiratory failure |
ORPHA:14 |
Polymyositis |
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Elevated circulating creatine kinase concentration, Chondrocalcinosis, Weight loss |
ORPHA:732 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sparse hair, Intrauterine growth retardation, Frontal hirsutism, Short stature |
OMIM:617157 |
Cutis Laxa, Autosomal Dominant 1 |
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Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Bronchiectasis, Emp... |
OMIM:123700 |
Familial Colorectal Cancer Type X |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar... |
ORPHA:440437 |
Criss-Cross Heart |
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Cyanosis |
ORPHA:1461 |
Autosomal Dominant Epidermolytic Ichthyosis |
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Weight loss |
ORPHA:312 |
Inflammatory Bowel Disease 11 |
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Weight loss |
OMIM:191390 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Sparse hair, Nail dysplasia |
OMIM:616682 |
Focal Dermal Hypoplasia |
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Ridged nail, Brittle hair, Short stature, Supernumerary nipple, Telangiectasia, Patchy alopecia, ... |
OMIM:305600 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... |
OMIM:610655 |
Pancreatoblastoma |
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Weight loss, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph ... |
ORPHA:677 |
Stevens-Johnson Syndrome |
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Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss |
ORPHA:36426 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Weight loss, Hydrocele ... |
ORPHA:49041 |
Phakomatosis Pigmentokeratotica |
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Precocious puberty, Cryptorchidism, Patchy alopecia, Pheochromocytoma, Hypophosphatemic rickets |
ORPHA:2874 |
Klatskin Tumor |
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Weight loss, Lymphadenopathy |
ORPHA:99978 |
Norrie Disease |
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Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Failure to thrive |
ORPHA:649 |
Toxic Epidermal Necrolysis |
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Thrombocytopenia, Weight loss, Anemia, Neutropenia |
ORPHA:537 |
Granulomatosis With Polyangiitis |
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Granulomatosis, Weight loss |
OMIM:608710 |
Immunodeficiency 47 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:276621 |
Ileal Neuroendocrine Tumor |
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Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased serum ... |
ORPHA:100078 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Inguinal hernia, Short stature, Hypothyroidism, Increased circulatin... |
OMIM:619472 |
Rheumatoid Arthritis |
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Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Igg4-Related Kidney Disease |
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Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... |
ORPHA:449395 |
Renal Nutcracker Syndrome |
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Anemia, Weight loss |
ORPHA:71273 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect |
ORPHA:96334 |
Rat-Bite Fever |
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Anemia, Lymphadenitis, Parotitis, Weight loss |
ORPHA:31205 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Weight loss |
ORPHA:216866 |
Sympathetic Ophthalmia |
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Alopecia, Posterior uveitis, Poliosis |
ORPHA:79098 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Cap Polyposis |
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Weight loss |
ORPHA:160148 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2556 |
Peritoneal Cystic Mesothelioma |
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Weight loss |
ORPHA:168816 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax |
ORPHA:731 |
Lysinuric Protein Intolerance |
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Glomerulonephritis, Decreased response to growth hormone stimulation test, Respiratory insufficie... |
ORPHA:470 |
Menke-Hennekam Syndrome 1 |
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Sparse hair, Recurrent upper respiratory tract infections, Long eyelashes, Thick eyebrow |
OMIM:618332 |
Malignant Peritoneal Mesothelioma |
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Weight loss |
ORPHA:168811 |
Myasthenia Gravis |
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Acrocyanosis |
ORPHA:589 |
Liposarcoma |
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Weight loss |
ORPHA:69078 |
Wild Type Attr Amyloidosis |
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Weight loss |
ORPHA:330001 |
Yao Syndrome |
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Weight loss |
OMIM:617321 |
Niemann-Pick Disease Type C |
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Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Hereditary Pheochromocytoma-Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:29072 |
Branchiooculofacial Syndrome |
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Supernumerary nipple, Postnatal growth retardation, Low posterior hairline, Premature graying of ... |
OMIM:113620 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure |
ORPHA:805 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Cardiac Valvular Dysplasia 1 |
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Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
Aortic Arch Interruption |
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Cyanosis, Aortopulmonary window |
ORPHA:2299 |
Adams-Oliver Syndrome 1 |
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Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
Congenital Tufting Enteropathy |
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Failure to thrive, Weight loss |
ORPHA:92050 |
Granulomatosis With Polyangiitis |
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Elevated circulating C-reactive protein concentration, Weight loss, Granulomatosis, Abnormality o... |
ORPHA:900 |
Gallbladder Neuroendocrine Tumor |
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Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100086 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Acquired Central Diabetes Insipidus |
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Diabetes insipidus, Weight loss |
ORPHA:95626 |
Oromandibular Dystonia |
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Weight loss |
ORPHA:93958 |
Glucose-Galactose Malabsorption |
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Failure to thrive, Weight loss |
ORPHA:35710 |
Otopalatodigital Syndrome, Type Ii |
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Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Cyanosis |
OMIM:617239 |
Alström Syndrome |
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Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
Fatal Familial Insomnia |
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Weight loss |
OMIM:600072 |
Pallister-Killian Syndrome |
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Omphalocele, Sparse scalp hair, Alopecia, Inguinal hernia, Rhizomelia, Sparse eyelashes, Supernum... |
OMIM:601803 |
Reactive Arthritis |
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Weight loss, Dystrophic fingernails, Abnormality of the nail, Enthesitis |
ORPHA:29207 |
Thyrotoxic Periodic Paralysis |
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Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Aicardi-Goutières Syndrome |
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Acrocyanosis, Cutis marmorata, Short stature, Prolonged neonatal jaundice |
ORPHA:51 |
Eisenmenger Syndrome |
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Hypoxemia, Cyanosis, Aortopulmonary window |
ORPHA:97214 |
Congenital Total Pulmonary Venous Return Anomaly |
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Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... |
ORPHA:99125 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Respiratory failure, Emphysema |
ORPHA:500150 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Inguinal hernia, Short stature, Abnormality of hair texture, Abnormal eyelash morpholog... |
ORPHA:286 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Weight loss, Increased ... |
ORPHA:91500 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Roberts-Sc Phocomelia Syndrome |
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Sparse hair, Stillbirth, Postnatal growth retardation, Severe intrauterine growth retardation |
OMIM:268300 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Growth delay, Aplasia of the sweat glands, Recurrent Staphylococcus aur... |
ORPHA:642 |
Primrose Syndrome |
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Sparse scalp hair, Short stature, Absent facial hair, Synophrys, Delayed puberty, Absent axillary... |
OMIM:259050 |
Behçet Disease |
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Orchitis, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:117 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Failure to thrive, Weight loss |
ORPHA:1018 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... |
ORPHA:2388 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Short stature, Pulmonary sequestration |
OMIM:618330 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Growth delay, Osteomalacia, Weight loss |
ORPHA:3337 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |