Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
Intellectual Developmental Disorder, X-Linked 88 |
|
Seizure |
OMIM:300852 |
Intellectual Developmental Disorder, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
Intellectual Developmental Disorder, Autosomal Dominant 10 |
|
Seizure |
OMIM:614256 |
Epilepsy, Benign Occipital |
|
EEG abnormality |
OMIM:132090 |
Epilepsy, Reading |
|
EEG abnormality |
OMIM:132300 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology |
OMIM:601780 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Bifid nose |
OMIM:614838 |
Paroxysmal Extreme Pain Disorder |
|
Seizure |
ORPHA:46348 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia |
OMIM:612702 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia |
OMIM:610628 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:244200 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Hyposmia, Anosmia, Urinary incontinence, Abnormal nerve conduction velocity |
OMIM:243000 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Choanal atresia |
OMIM:147950 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia |
OMIM:617885 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Total anosmia |
OMIM:614879 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614880 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Anosmia, Stage 5 chronic kidney disease, Renal cyst, Hyposmia, Micropenis |
OMIM:615994 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia |
OMIM:614897 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Hypoplasia of penis, Anosmia |
ORPHA:1295 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Micropenis, Anosmia |
OMIM:618841 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Anosmia |
OMIM:601152 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Micropenis, Abnormality of the sense of smell |
OMIM:146110 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia, Decreased motor nerve conduction velocity |
OMIM:613724 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Anosmia, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Chro... |
OMIM:244400 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:308700 |
Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Eczema, Erythroderma |
ORPHA:2897 |
Refsum Disease, Classic |
|
Anosmia, Abnormal renal physiology |
OMIM:266500 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:616030 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614841 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:308750 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia |
ORPHA:2316 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614837 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Kufor-Rakeb Syndrome |
|
Hyposmia, Anosmia |
OMIM:606693 |
Refsum Disease |
|
Renal insufficiency, Anosmia |
ORPHA:773 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Renal insufficiency, Renal hypoplasia, Hydronephrosis |
OMIM:615996 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,... |
OMIM:618131 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Micropenis, Hypospadias, Erythroderma |
OMIM:618840 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anosmia |
ORPHA:3157 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... |
ORPHA:139402 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Kallmann Syndrome |
|
Hyposmia, Hypoplasia of penis, Anosmia, Micropenis |
ORPHA:478 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma |
ORPHA:169160 |
Netherton Syndrome |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroderma |
OMIM:256500 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Anteverted nares, Choanal atresia, Pr... |
ORPHA:2162 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Erythroderma, Pruritus |
ORPHA:79394 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Micropenis, Partial anosmia, Total anosmia |
ORPHA:2326 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anosmia, Single naris, Absent nares, Hyposmia |
ORPHA:2250 |
Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Pruritus, Erythroderma |
ORPHA:313 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Huntington Disease |
|
Abnormality of the sense of smell |
ORPHA:399 |
8P11.2 Deletion Syndrome |
|
Anosmia, Hypoplasia of penis, Depressed nasal bridge |
ORPHA:251066 |
Peeling Skin Syndrome 1 |
|
Pruritus, Erythroderma |
OMIM:270300 |
Congenital Disorder Of Glycosylation, Type If |
|
Hypsarrhythmia, Renal cortical cysts, Erythroderma |
OMIM:609180 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma |
ORPHA:79481 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Erythroderma |
OMIM:620150 |
Omenn Syndrome |
|
Pneumonia, Pruritus, Thyroiditis, Nephrotic syndrome, Erythroderma |
ORPHA:39041 |
Gorlin Syndrome |
|
Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Anosmia |
OMIM:609136 |
Superficial Siderosis |
|
Functional abnormality of the bladder, Anosmia, Partial anosmia |
ORPHA:247245 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Concave nasal ridge, Chronic oral can... |
OMIM:606367 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Harlequin Ichthyosis |
|
Depressed nasal ridge, Erythroderma |
ORPHA:457 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis, Abnormal rena... |
ORPHA:540 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Micropenis, Anosmia, Hypospadias |
OMIM:619718 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis, Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Wide nose, Eczema, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Epidermodysplasia Verruciformis |
|
Pustule, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma |
OMIM:609165 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia, Recurrent skin infections |
OMIM:616488 |
Sézary Syndrome |
|
Pruritus, Erythroderma |
ORPHA:3162 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Choanal atresia, Anosmia, Aplasia of the nose, Micropenis |
OMIM:603457 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Kleine-Levin Syndrome |
|
Parosmia |
ORPHA:33543 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Depressed nasal bridge, Hydronephrosis, Erythroderma |
ORPHA:35173 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:79456 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Micropenis, Abnormality of the sense of smell |
OMIM:228300 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Erythroderma |
ORPHA:169154 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Depressed nasal bridge, Broad nasal tip, Prominent nose, Erythroderma |
OMIM:617425 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, E... |
OMIM:615508 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Erythroderma, Vesicoureteral reflux |
OMIM:615895 |
Charge Syndrome |
|
Depressed nasal bridge, Choanal atresia, Anosmia, Horseshoe kidney, Vesicoureteral reflux, Microp... |
ORPHA:138 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Erythroderma |
OMIM:242150 |
Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Anosmia, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis... |
ORPHA:2363 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Concave nasal ridge, Hydronephrosis, Erythroderma |
OMIM:302960 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Seborrheic dermatitis |
OMIM:614441 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Organic aciduria, Conjunctivitis |
OMIM:253260 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia |
ORPHA:137596 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Short nose, Erythroderma |
OMIM:601675 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Hydronephrosis, Abnormality of the sense of smell |
ORPHA:140 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis |
OMIM:167100 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunctivitis |
ORPHA:488618 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Wilson Disease |
|
Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Osteoarthritis, Atypical or ... |
OMIM:277900 |
Polyendocrine-Polyneuropathy Syndrome |
|
Abnormality of the sense of smell |
OMIM:616113 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... |
ORPHA:3260 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Arthritis, Eczematoid dermatitis |
ORPHA:2796 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthritis, Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:259100 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Hyperglycinuria, Organic aciduria, Seborrheic dermatitis |
OMIM:210210 |
Omenn Syndrome |
|
Pneumonia, Erythroderma |
OMIM:603554 |
Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis |
OMIM:246400 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Hyposmia, Infectious encephalitis |
ORPHA:68 |
Moebius Syndrome |
|
Blepharitis, Abnormality of the sense of smell |
ORPHA:570 |
Benign Schwannoma |
|
Nasal polyposis, Allodynia, Abnormality of peripheral nervous system electrophysiology |
ORPHA:252164 |
Charge Syndrome |
|
Choanal atresia, Anosmia, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis |
OMIM:214800 |
Monosomy 22 |
|
Wide nose, Prominent nasolabial fold, Micropenis, Seborrheic dermatitis |
ORPHA:96123 |
Young-Onset Parkinson Disease |
|
Hyposmia |
ORPHA:2828 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Keratoconjunctivitis sicca, Conjunctivitis, Eczema |
ORPHA:33364 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Seborrheic dermatitis, Hypsarrhythmia, Vesicoureteral r... |
OMIM:300868 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Enuresis, Convex nasal ridge, Eczema, Seborrheic dermatitis |
ORPHA:369950 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Hyposmia, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pruritus,... |
ORPHA:83617 |
Hereditary Late-Onset Parkinson Disease |
|
Hyposmia, Spastic/hyperactive bladder |
ORPHA:411602 |
22Q11.2 Deletion Syndrome |
|
Acne, Choanal atresia, Prominent nasal bridge, Seborrheic dermatitis, Hypospadias, Bulbous nose, ... |
ORPHA:567 |
Occipital Horn Syndrome |
|
Bladder diverticulum, Hepatitis, Esophagitis, Abnormality of the sense of smell |
ORPHA:198 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Recurrent skin infections, Eczema, Hypospadias, Unilateral renal ag... |
OMIM:308205 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Anteverted nares, Seborrheic dermatitis, Horseshoe kidney, Vesicoureteral r... |
OMIM:274000 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Depressed nasal ridge, Hyposmia, Micropenis |
OMIM:151100 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Meningioma |
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Urinary incontinence, Abnormality of the sense of smell |
ORPHA:2495 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Enlarged kidney, Seborrheic dermatitis |
ORPHA:276280 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Allodynia |
OMIM:603041 |
Dravet Syndrome |
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Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... |
ORPHA:33069 |
Digeorge Syndrome |
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Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,... |
OMIM:188400 |
Progressive Supranuclear Palsy |
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Abnormal synaptic transmission |
ORPHA:683 |
Primary Erythromelalgia |
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Pruritus |
ORPHA:90026 |
Erythermalgia, Primary |
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Pruritus, Keratoconjunctivitis sicca |
OMIM:133020 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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ORPHA:970 |
Paroxysmal Extreme Pain Disorder |
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OMIM:167400 |